Canonical Allele Identifier: CA536666
Gene: SKI HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.2303937G>A
GRCh37 chr1:g.2235376G>A
Revel Score:
ENST00000378536 (MANE Select) 0.153
gnomAD v2:
1:2235376 G / A
gnomAD v3:
1:2303937 G / A
gnomAD v4:
chr1-2303937-G-A
Joint Max Group AF 0.00029517 (NFE)
Genomes Max Group AF 0.00012404 (NFE)
Exomes Max Group AF 0.00030048 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2303937G>A , CM000663.2:g.2303937G>A GRCh38
NC_000001.10:g.2235376G>A , CM000663.1:g.2235376G>A GRCh37
NC_000001.9:g.2225236G>A NCBI36
NG_013084.1:g.80243G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378536.5:c.1309G>A MANE Select ENSP00000367797.4:p.Ala437Thr
ENST00000378536.4:c.1309G>A ENSP00000367797.4:p.Ala437Thr
ENST00000507179.1:n.292G>A
NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr
XM_005244775.2:c.1309G>A XP_005244832.1:p.Ala437Thr
XM_005244776.3:c.439G>A XP_005244833.1:p.Ala147Thr
XM_005244775.3:c.1309G>A XP_005244832.1:p.Ala437Thr
XM_005244776.4:c.439G>A XP_005244833.1:p.Ala147Thr
XM_017002128.1:c.817G>A XP_016857617.1:p.Ala273Thr
NM_003036.4:c.1309G>A MANE Select NP_003027.1:p.Ala437Thr
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