Canonical Allele Identifier: CA337951931
Gene: SKI HGNC NCBI

Linked Data

ClinVar Variation Id: 520162
ClinVar RCV Id: RCV002315205
dbSNP Id: rs1553189820
gnomAD v4: 1-2228795-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2228795G>A , CM000663.2:g.2228795G>A GRCh38
NC_000001.10:g.2160234G>A , CM000663.1:g.2160234G>A GRCh37
NC_000001.9:g.2150094G>A NCBI36
NG_013084.1:g.5101G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704337.1:n.137+1271G>A
ENST00000378536.5:c.29G>A MANE Select ENSP00000367797.4:p.Cys10Tyr
ENST00000378536.4:c.29G>A ENSP00000367797.4:p.Cys10Tyr
NM_003036.3:c.29G>A NP_003027.1:p.Cys10Tyr
XM_005244775.2:c.29G>A XP_005244832.1:p.Cys10Tyr
XM_005244775.3:c.29G>A XP_005244832.1:p.Cys10Tyr
NM_003036.4:c.29G>A MANE Select NP_003027.1:p.Cys10Tyr