Canonical Allele Identifier: CA321949

Gene: SKI

Linked Data

• ClinVar Variation Id: 213679
• ClinVar RCV Id: RCV000807347 ; RCV001579938 ; RCV002426932
• dbSNP Id: rs754486257
• ExAC: 1:2238158 G / A
• gnomAD v2: 1-2238158-G-A
• gnomAD v3: 1-2306719-G-A
• gnomAD v4: 1-2306719-G-A
• MyVariant Identifiers: chr1:g.2238158G>A (hg19) ; chr1:g.2306719G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2306719G>A , CM000663.2:g.2306719G>A	GRCh38
NC_000001.10:g.2238158G>A , CM000663.1:g.2238158G>A	GRCh37
NC_000001.9:g.2228018G>A	NCBI36
NG_013084.1:g.83025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378536.5:c.2141G>A MANE Select	ENSP00000367797.4:p.Arg714His
ENST00000378536.4:c.2141G>A	ENSP00000367797.4:p.Arg714His
NM_003036.3:c.2141G>A	NP_003027.1:p.Arg714His
XM_005244775.2:c.2147G>A	XP_005244832.1:p.Arg716His
XM_005244776.3:c.1277G>A	XP_005244833.1:p.Arg426His
XM_005244775.3:c.2147G>A	XP_005244832.1:p.Arg716His
XM_005244776.4:c.1277G>A	XP_005244833.1:p.Arg426His
XM_017002128.1:c.1655G>A	XP_016857617.1:p.Arg552His
NM_003036.4:c.2141G>A MANE Select	NP_003027.1:p.Arg714His