Canonical Allele Identifier: CA337954633

Gene: SKI

Linked Data

• MyVariant Identifiers: chr1:g.2234824C>A (hg19) ; chr1:g.2303385C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303385C>A , CM000663.2:g.2303385C>A	GRCh38
NC_000001.10:g.2234824C>A , CM000663.1:g.2234824C>A	GRCh37
NC_000001.9:g.2224684C>A	NCBI36
NG_013084.1:g.79691C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.364C>A
ENST00000378536.5:c.1196C>A MANE Select	ENSP00000367797.4:p.Ala399Asp
ENST00000378536.4:c.1196C>A	ENSP00000367797.4:p.Ala399Asp
NM_003036.3:c.1196C>A	NP_003027.1:p.Ala399Asp
XM_005244775.2:c.1196C>A	XP_005244832.1:p.Ala399Asp
XM_005244776.3:c.326C>A	XP_005244833.1:p.Ala109Asp
XM_005244775.3:c.1196C>A	XP_005244832.1:p.Ala399Asp
XM_005244776.4:c.326C>A	XP_005244833.1:p.Ala109Asp
XM_017002128.1:c.704C>A	XP_016857617.1:p.Ala235Asp
NM_003036.4:c.1196C>A MANE Select	NP_003027.1:p.Ala399Asp