Canonical Allele Identifier: CA536715

Gene: SKI

Linked Data

• ClinVar Variation Id: 229252
• ClinVar RCV Id: RCV000218491 ; RCV000535528 ; RCV002466469
• dbSNP Id: rs200717031
• ExAC: 1:2235523 G / A
• gnomAD v2: 1-2235523-G-A
• gnomAD v3: 1-2304084-G-A
• gnomAD v4: 1-2304084-G-A
• MyVariant Identifiers: chr1:g.2235523G>A (hg19) ; chr1:g.2304084G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2304084G>A , CM000663.2:g.2304084G>A	GRCh38
NC_000001.10:g.2235523G>A , CM000663.1:g.2235523G>A	GRCh37
NC_000001.9:g.2225383G>A	NCBI36
NG_013084.1:g.80390G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378536.5:c.1456G>A MANE Select	ENSP00000367797.4:p.Val486Ile
ENST00000378536.4:c.1456G>A	ENSP00000367797.4:p.Val486Ile
ENST00000507179.1:n.439G>A
NM_003036.3:c.1456G>A	NP_003027.1:p.Val486Ile
XM_005244775.2:c.1456G>A	XP_005244832.1:p.Val486Ile
XM_005244776.3:c.586G>A	XP_005244833.1:p.Val196Ile
XM_005244775.3:c.1456G>A	XP_005244832.1:p.Val486Ile
XM_005244776.4:c.586G>A	XP_005244833.1:p.Val196Ile
XM_017002128.1:c.964G>A	XP_016857617.1:p.Val322Ile
NM_003036.4:c.1456G>A MANE Select	NP_003027.1:p.Val486Ile