Canonical Allele Identifier: CA412642314

Gene: GK

Linked Data

• gnomAD v4: X-30724109-A-G
• MyVariant Identifiers: chrX:g.30742226A>G (hg19) ; chrX:g.30724109A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30724109A>G , CM000685.2:g.30724109A>G	GRCh38
NC_000023.10:g.30742226A>G , CM000685.1:g.30742226A>G	GRCh37
NC_000023.9:g.30652147A>G	NCBI36
NG_008178.1:g.75751A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692461.1:c.1576A>G	ENSP00000509378.1:p.Ile526Val
ENST00000427190.6:c.1510A>G MANE Select	ENSP00000401720.2:p.Ile504Val
ENST00000479048.6:c.*1213A>G	ENSP00000420676.1:n.*1213A>G
ENST00000378943.7:c.1492A>G	ENSP00000368226.3:p.Ile498Val
ENST00000378945.7:c.1492A>G	ENSP00000368228.3:p.Ile498Val
ENST00000378946.7:c.1510A>G	ENSP00000368229.3:p.Ile504Val
ENST00000427190.5:c.1510A>G	ENSP00000401720.2:p.Ile504Val
ENST00000481024.5:c.*1366A>G	ENSP00000418873.1:n.*1366A>G
NM_000167.5:c.1492A>G	NP_000158.1:p.Ile498Val
NM_001128127.2:c.1492A>G	NP_001121599.1:p.Ile498Val
NM_001205019.1:c.1510A>G	NP_001191948.1:p.Ile504Val
NM_203391.3:c.1510A>G	NP_976325.1:p.Ile504Val
XM_005274488.3:c.877A>G	XP_005274545.1:p.Ile293Val
XM_006724483.2:c.1576A>G	XP_006724546.1:p.Ile526Val
XM_006724484.2:c.1576A>G	XP_006724547.1:p.Ile526Val
XM_006724485.2:c.895A>G	XP_006724548.1:p.Ile299Val
XM_006724486.2:c.895A>G	XP_006724549.1:p.Ile299Val
XM_011545491.1:c.1594A>G	XP_011543793.1:p.Ile532Val
XM_011545492.1:c.1594A>G	XP_011543794.1:p.Ile532Val
XM_011545493.1:c.895A>G	XP_011543795.1:p.Ile299Val
XM_011545494.1:c.895A>G	XP_011543796.1:p.Ile299Val
XM_005274488.4:c.877A>G	XP_005274545.1:p.Ile293Val
XM_006724486.3:c.895A>G	XP_006724549.1:p.Ile299Val
XM_011545491.2:c.1594A>G	XP_011543793.1:p.Ile532Val
XM_011545493.2:c.895A>G	XP_011543795.1:p.Ile299Val
XM_011545494.2:c.895A>G	XP_011543796.1:p.Ile299Val
XM_017029409.1:c.895A>G	XP_016884898.1:p.Ile299Val
XM_017029410.1:c.895A>G	XP_016884899.1:p.Ile299Val
XM_017029411.1:c.877A>G	XP_016884900.1:p.Ile293Val
XM_017029412.2:c.877A>G	XP_016884901.1:p.Ile293Val
NM_000167.6:c.1492A>G	NP_000158.1:p.Ile498Val
NM_001128127.3:c.1492A>G	NP_001121599.1:p.Ile498Val
NM_001205019.2:c.1510A>G MANE Select	NP_001191948.1:p.Ile504Val
NM_203391.4:c.1510A>G	NP_976325.1:p.Ile504Val
NM_001399987.1:c.1576A>G	NP_001386916.1:p.Ile526Val
NR_174369.1:n.1790A>G
NR_174370.1:n.1518A>G
NR_174371.1:n.1444A>G
NR_174372.1:n.1426A>G
NR_174373.1:n.1500A>G
NR_174374.1:n.1444A>G
NR_174375.1:n.1426A>G