Canonical Allele Identifier: CA11501192
Gene: PXK HGNC NCBI

Linked Data

dbSNP Id: rs13315871
gnomAD v2: 3-58381287-G-A
gnomAD v3: 3-58395560-G-A
gnomAD v4: 3-58395560-G-A
MyVariant Identifiers: chr3:g.58381287G>A (hg19) chr3:g.58395560G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58395560G>A , CM000665.2:g.58395560G>A GRCh38
NC_000003.11:g.58381287G>A , CM000665.1:g.58381287G>A GRCh37
NC_000003.10:g.58356327G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356151.7:c.721-98G>A MANE Select ENSP00000348472.2:n.721-98G>A
ENST00000302779.9:c.721-98G>A ENSP00000305045.6:n.721-98G>A
ENST00000356151.6:c.721-98G>A ENSP00000348472.2:n.721-98G>A
ENST00000383715.8:c.670-98G>A ENSP00000373221.4:n.670-98G>A
ENST00000383716.7:c.721-98G>A ENSP00000373222.4:n.721-98G>A
ENST00000463280.5:c.622-98G>A ENSP00000417903.1:n.622-98G>A
ENST00000468776.5:c.*264-98G>A ENSP00000417167.1:n.*264-98G>A
ENST00000477308.5:c.*68-98G>A ENSP00000420403.1:n.*68-98G>A
ENST00000479241.5:c.670-98G>A ENSP00000419049.1:n.670-98G>A
ENST00000484288.5:c.721-98G>A ENSP00000417915.1:n.721-98G>A
NM_001289095.1:c.670-98G>A NP_001276024.1:n.670-98G>A
NM_001289096.1:c.622-98G>A NP_001276025.1:n.622-98G>A
NM_001289098.1:c.721-98G>A NP_001276027.1:n.721-98G>A
NM_001289099.1:c.472-98G>A NP_001276028.1:n.472-98G>A
NM_001289100.1:c.622-98G>A NP_001276029.1:n.622-98G>A
NM_001289101.1:c.310-98G>A NP_001276030.1:n.310-98G>A
NM_017771.4:c.721-98G>A NP_060241.2:n.721-98G>A
XM_005265250.3:c.721-98G>A XP_005265307.1:n.721-98G>A
XM_005265252.3:c.721-98G>A XP_005265309.1:n.721-98G>A
XM_005265255.2:c.721-98G>A XP_005265312.1:n.721-98G>A
XM_005265256.2:c.721-98G>A XP_005265313.1:n.721-98G>A
XM_011533864.1:c.721-98G>A XP_011532166.1:n.721-98G>A
XM_011533865.1:c.721-98G>A XP_011532167.1:n.721-98G>A
XM_011533866.1:c.670-98G>A XP_011532168.1:n.670-98G>A
XM_011533867.1:c.721-98G>A XP_011532169.1:n.721-98G>A
XM_011533868.1:c.472-98G>A XP_011532170.1:n.472-98G>A
XR_940460.1:n.820-98G>A
XR_940461.1:n.820-98G>A
XR_940462.1:n.820-98G>A
XR_940463.1:n.820-98G>A
NM_001349488.1:c.721-98G>A NP_001336417.1:n.721-98G>A
NM_001349489.1:c.472-98G>A NP_001336418.1:n.472-98G>A
NM_001349490.1:c.622-98G>A NP_001336419.1:n.622-98G>A
NM_001349491.1:c.310-98G>A NP_001336420.1:n.310-98G>A
NM_001349492.1:c.721-98G>A NP_001336421.1:n.721-98G>A
NM_001349493.1:c.721-98G>A NP_001336422.1:n.721-98G>A
NM_001349494.1:c.673-98G>A NP_001336423.1:n.673-98G>A
NM_001349495.1:c.673-98G>A NP_001336424.1:n.673-98G>A
NM_001349496.1:c.670-98G>A NP_001336425.1:n.670-98G>A
NM_001349497.1:c.670-98G>A NP_001336426.1:n.670-98G>A
NM_001349498.1:c.661-98G>A NP_001336427.1:n.661-98G>A
NM_001349499.1:c.721-98G>A NP_001336428.1:n.721-98G>A
NM_001349500.1:c.622-98G>A NP_001336429.1:n.622-98G>A
NM_001349501.1:c.673-98G>A NP_001336430.1:n.673-98G>A
NM_001349502.1:c.670-98G>A NP_001336431.1:n.670-98G>A
NM_001349503.1:c.721-98G>A NP_001336432.1:n.721-98G>A
NM_001349504.1:c.721-98G>A NP_001336433.1:n.721-98G>A
NM_001349506.1:c.721-98G>A NP_001336435.1:n.721-98G>A
NM_001349507.1:c.721-98G>A NP_001336436.1:n.721-98G>A
NM_001349508.1:c.721-98G>A NP_001336437.1:n.721-98G>A
NM_001349509.1:c.721-98G>A NP_001336438.1:n.721-98G>A
NM_001349510.1:c.673-98G>A NP_001336439.1:n.673-98G>A
NM_001349511.1:c.673-98G>A NP_001336440.1:n.673-98G>A
NM_001349512.1:c.673-98G>A NP_001336441.1:n.673-98G>A
NM_001349513.1:c.472-98G>A NP_001336442.1:n.472-98G>A
NM_001349514.1:c.670-98G>A NP_001336443.1:n.670-98G>A
NM_001349515.1:c.670-98G>A NP_001336444.1:n.670-98G>A
NM_001349516.1:c.673-98G>A NP_001336445.1:n.673-98G>A
NM_001349517.1:c.670-98G>A NP_001336446.1:n.670-98G>A
NM_001349518.1:c.670-98G>A NP_001336447.1:n.670-98G>A
NM_001349519.1:c.721-98G>A NP_001336448.1:n.721-98G>A
NM_001349520.1:c.721-98G>A NP_001336449.1:n.721-98G>A
NM_001349521.1:c.472-98G>A NP_001336450.1:n.472-98G>A
NM_001349522.1:c.622-98G>A NP_001336451.1:n.622-98G>A
NM_001349524.1:c.622-98G>A NP_001336453.1:n.622-98G>A
NM_001349525.1:c.310-98G>A NP_001336454.1:n.310-98G>A
NM_001349526.1:c.310-98G>A NP_001336455.1:n.310-98G>A
NM_001349527.1:c.721-98G>A NP_001336456.1:n.721-98G>A
NM_001349528.1:c.472-98G>A NP_001336457.1:n.472-98G>A
NM_001349529.1:c.472-98G>A NP_001336458.1:n.472-98G>A
NM_001349530.1:c.472-98G>A NP_001336459.1:n.472-98G>A
NM_001349531.1:c.472-98G>A NP_001336460.1:n.472-98G>A
NM_001349532.1:c.310-98G>A NP_001336461.1:n.310-98G>A
NM_001349533.1:c.310-98G>A NP_001336462.1:n.310-98G>A
NM_001349534.1:c.310-98G>A NP_001336463.1:n.310-98G>A
NM_001349535.1:c.310-98G>A NP_001336464.1:n.310-98G>A
NM_001349536.1:c.310-98G>A NP_001336465.1:n.310-98G>A
NM_001349537.1:c.310-98G>A NP_001336466.1:n.310-98G>A
NM_001349538.1:c.310-98G>A NP_001336467.1:n.310-98G>A
NM_001349539.1:c.310-98G>A NP_001336468.1:n.310-98G>A
NM_001349540.1:c.310-98G>A NP_001336469.1:n.310-98G>A
NR_146193.1:n.582-98G>A
NR_146194.1:n.820-98G>A
XM_005265250.4:c.721-98G>A XP_005265307.1:n.721-98G>A
XM_017006678.1:c.721-98G>A XP_016862167.1:n.721-98G>A
XM_017006683.1:c.670-98G>A XP_016862172.1:n.670-98G>A
NM_017771.5:c.721-98G>A MANE Select NP_060241.2:n.721-98G>A
NM_001289095.2:c.670-98G>A NP_001276024.1:n.670-98G>A
NM_001289096.2:c.622-98G>A NP_001276025.1:n.622-98G>A
NM_001289098.2:c.721-98G>A NP_001276027.1:n.721-98G>A
NM_001289099.2:c.472-98G>A NP_001276028.1:n.472-98G>A
NM_001289100.2:c.622-98G>A NP_001276029.1:n.622-98G>A
NM_001289101.2:c.310-98G>A NP_001276030.1:n.310-98G>A
NM_001349488.2:c.721-98G>A NP_001336417.1:n.721-98G>A
NM_001349489.2:c.472-98G>A NP_001336418.1:n.472-98G>A
NM_001349490.2:c.622-98G>A NP_001336419.1:n.622-98G>A
NM_001349491.2:c.310-98G>A NP_001336420.1:n.310-98G>A
NM_001349492.2:c.721-98G>A NP_001336421.1:n.721-98G>A
NM_001349493.2:c.721-98G>A NP_001336422.1:n.721-98G>A
NM_001349494.2:c.673-98G>A NP_001336423.1:n.673-98G>A
NM_001349495.2:c.673-98G>A NP_001336424.1:n.673-98G>A
NM_001349496.2:c.670-98G>A NP_001336425.1:n.670-98G>A
NM_001349497.2:c.670-98G>A NP_001336426.1:n.670-98G>A
NM_001349499.2:c.721-98G>A NP_001336428.1:n.721-98G>A
NM_001349500.2:c.622-98G>A NP_001336429.1:n.622-98G>A
NM_001349501.2:c.673-98G>A NP_001336430.1:n.673-98G>A
NM_001349502.2:c.670-98G>A NP_001336431.1:n.670-98G>A
NM_001349503.2:c.721-98G>A NP_001336432.1:n.721-98G>A
NM_001349504.2:c.721-98G>A NP_001336433.1:n.721-98G>A
NM_001349506.2:c.721-98G>A NP_001336435.1:n.721-98G>A
NM_001349507.2:c.721-98G>A NP_001336436.1:n.721-98G>A
NM_001349508.2:c.721-98G>A NP_001336437.1:n.721-98G>A
NM_001349509.2:c.721-98G>A NP_001336438.1:n.721-98G>A
NM_001349510.2:c.673-98G>A NP_001336439.1:n.673-98G>A
NM_001349511.2:c.673-98G>A NP_001336440.1:n.673-98G>A
NM_001349512.2:c.673-98G>A NP_001336441.1:n.673-98G>A
NM_001349513.2:c.472-98G>A NP_001336442.1:n.472-98G>A
NM_001349514.2:c.670-98G>A NP_001336443.1:n.670-98G>A
NM_001349515.2:c.670-98G>A NP_001336444.1:n.670-98G>A
NM_001349516.2:c.673-98G>A NP_001336445.1:n.673-98G>A
NM_001349517.2:c.670-98G>A NP_001336446.1:n.670-98G>A
NM_001349518.2:c.670-98G>A NP_001336447.1:n.670-98G>A
NM_001349519.2:c.721-98G>A NP_001336448.1:n.721-98G>A
NM_001349520.2:c.721-98G>A NP_001336449.1:n.721-98G>A
NM_001349521.2:c.472-98G>A NP_001336450.1:n.472-98G>A
NM_001349522.2:c.622-98G>A NP_001336451.1:n.622-98G>A
NM_001349524.2:c.622-98G>A NP_001336453.1:n.622-98G>A
NM_001349525.2:c.310-98G>A NP_001336454.1:n.310-98G>A
NM_001349526.2:c.310-98G>A NP_001336455.1:n.310-98G>A
NM_001349527.2:c.721-98G>A NP_001336456.1:n.721-98G>A
NM_001349528.2:c.472-98G>A NP_001336457.1:n.472-98G>A
NM_001349529.2:c.472-98G>A NP_001336458.1:n.472-98G>A
NM_001349530.2:c.472-98G>A NP_001336459.1:n.472-98G>A
NM_001349531.2:c.472-98G>A NP_001336460.1:n.472-98G>A
NM_001349532.2:c.310-98G>A NP_001336461.1:n.310-98G>A
NM_001349533.2:c.310-98G>A NP_001336462.1:n.310-98G>A
NM_001349534.2:c.310-98G>A NP_001336463.1:n.310-98G>A
NM_001349535.2:c.310-98G>A NP_001336464.1:n.310-98G>A
NM_001349536.2:c.310-98G>A NP_001336465.1:n.310-98G>A
NM_001349537.2:c.310-98G>A NP_001336466.1:n.310-98G>A
NM_001349538.2:c.310-98G>A NP_001336467.1:n.310-98G>A
NM_001349539.2:c.310-98G>A NP_001336468.1:n.310-98G>A
NM_001349540.2:c.310-98G>A NP_001336469.1:n.310-98G>A
NR_146193.2:n.580-98G>A
NR_146194.2:n.818-98G>A
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