Canonical Allele Identifier: CA320484

Gene: SKI

Linked Data

• ClinVar Variation Id: 213675
• ClinVar RCV Id: RCV000196080 ; RCV001326178 ; RCV002399729
• dbSNP Id: rs376322470
• ExAC: 1:2235813 G / A
• gnomAD v2: 1-2235813-G-A
• gnomAD v3: 1-2304374-G-A
• gnomAD v4: 1-2304374-G-A
• MyVariant Identifiers: chr1:g.2235813G>A (hg19) ; chr1:g.2304374G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2304374G>A , CM000663.2:g.2304374G>A	GRCh38
NC_000001.10:g.2235813G>A , CM000663.1:g.2235813G>A	GRCh37
NC_000001.9:g.2225673G>A	NCBI36
NG_013084.1:g.80680G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378536.5:c.1556G>A MANE Select	ENSP00000367797.4:p.Arg519His
ENST00000378536.4:c.1556G>A	ENSP00000367797.4:p.Arg519His
NM_003036.3:c.1556G>A	NP_003027.1:p.Arg519His
XM_005244775.2:c.1562G>A	XP_005244832.1:p.Arg521His
XM_005244776.3:c.692G>A	XP_005244833.1:p.Arg231His
XM_005244775.3:c.1562G>A	XP_005244832.1:p.Arg521His
XM_005244776.4:c.692G>A	XP_005244833.1:p.Arg231His
XM_017002128.1:c.1070G>A	XP_016857617.1:p.Arg357His
NM_003036.4:c.1556G>A MANE Select	NP_003027.1:p.Arg519His