Canonical Allele Identifier: CA536588

Gene: SKI

Linked Data

• ClinVar Variation Id: 449711
• ClinVar RCV Id: RCV000522336 ; RCV001857959
• dbSNP Id: rs138088528
• ExAC: 1:2234737 T / C
• gnomAD v2: 1-2234737-T-C
• gnomAD v3: 1-2303298-T-C
• gnomAD v4: 1-2303298-T-C
• MyVariant Identifiers: chr1:g.2234737T>C (hg19) ; chr1:g.2303298T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303298T>C , CM000663.2:g.2303298T>C	GRCh38
NC_000001.10:g.2234737T>C , CM000663.1:g.2234737T>C	GRCh37
NC_000001.9:g.2224597T>C	NCBI36
NG_013084.1:g.79604T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.277T>C
ENST00000378536.5:c.1109T>C MANE Select	ENSP00000367797.4:p.Val370Ala
ENST00000378536.4:c.1109T>C	ENSP00000367797.4:p.Val370Ala
ENST00000478223.2:n.216T>C
NM_003036.3:c.1109T>C	NP_003027.1:p.Val370Ala
XM_005244775.2:c.1109T>C	XP_005244832.1:p.Val370Ala
XM_005244776.3:c.239T>C	XP_005244833.1:p.Val80Ala
XM_005244775.3:c.1109T>C	XP_005244832.1:p.Val370Ala
XM_005244776.4:c.239T>C	XP_005244833.1:p.Val80Ala
XM_017002128.1:c.617T>C	XP_016857617.1:p.Val206Ala
NM_003036.4:c.1109T>C MANE Select	NP_003027.1:p.Val370Ala