Canonical Allele Identifier: CA350063
Gene: SKI HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.2303886G>A
GRCh37 chr1:g.2235325G>A
Revel Score:
ENST00000378536 (MANE Select) 0.545
gnomAD v2:
1:2235325 G / A
gnomAD v3:
1:2303886 G / A
gnomAD v4:
chr1-2303886-G-A
Joint Max Group AF 0.00026792 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00028075 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2303886G>A , CM000663.2:g.2303886G>A GRCh38
NC_000001.10:g.2235325G>A , CM000663.1:g.2235325G>A GRCh37
NC_000001.9:g.2225185G>A NCBI36
NG_013084.1:g.80192G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704337.1:n.426G>A
ENST00000378536.5:c.1258G>A MANE Select ENSP00000367797.4:p.Ala420Thr
ENST00000378536.4:c.1258G>A ENSP00000367797.4:p.Ala420Thr
ENST00000507179.1:n.241G>A
NM_003036.3:c.1258G>A NP_003027.1:p.Ala420Thr
XM_005244775.2:c.1258G>A XP_005244832.1:p.Ala420Thr
XM_005244776.3:c.388G>A XP_005244833.1:p.Ala130Thr
XM_005244775.3:c.1258G>A XP_005244832.1:p.Ala420Thr
XM_005244776.4:c.388G>A XP_005244833.1:p.Ala130Thr
XM_017002128.1:c.766G>A XP_016857617.1:p.Ala256Thr
NM_003036.4:c.1258G>A MANE Select NP_003027.1:p.Ala420Thr
Search 100 bp 5'
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