Canonical Allele Identifier: CA323401

Gene: SKI

Linked Data

• ClinVar Variation Id: 213668
• ClinVar RCV Id: RCV000198871 ; RCV000436746 ; RCV000986220
• dbSNP Id: rs75280988
• ExAC: 1:2234791 C / T
• gnomAD v2: 1-2234791-C-T
• gnomAD v3: 1-2303352-C-T
• gnomAD v4: 1-2303352-C-T
• MyVariant Identifiers: chr1:g.2234791C>T (hg19) ; chr1:g.2303352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303352C>T , CM000663.2:g.2303352C>T	GRCh38
NC_000001.10:g.2234791C>T , CM000663.1:g.2234791C>T	GRCh37
NC_000001.9:g.2224651C>T	NCBI36
NG_013084.1:g.79658C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704337.1:n.331C>T
ENST00000378536.5:c.1163C>T MANE Select	ENSP00000367797.4:p.Ala388Val
ENST00000378536.4:c.1163C>T	ENSP00000367797.4:p.Ala388Val
ENST00000478223.2:n.270C>T
NM_003036.3:c.1163C>T	NP_003027.1:p.Ala388Val
XM_005244775.2:c.1163C>T	XP_005244832.1:p.Ala388Val
XM_005244776.3:c.293C>T	XP_005244833.1:p.Ala98Val
XM_005244775.3:c.1163C>T	XP_005244832.1:p.Ala388Val
XM_005244776.4:c.293C>T	XP_005244833.1:p.Ala98Val
XM_017002128.1:c.671C>T	XP_016857617.1:p.Ala224Val
NM_003036.4:c.1163C>T MANE Select	NP_003027.1:p.Ala388Val