Canonical Allele Identifier: CA325406

Gene: SKI

Linked Data

• ClinVar Variation Id: 213685
• ClinVar RCV Id: RCV000551275 ; RCV001722084 ; RCV002363009
• dbSNP Id: rs139179843
• ExAC: 1:2160845 A / G
• gnomAD v2: 1-2160845-A-G
• gnomAD v3: 1-2229406-A-G
• gnomAD v4: 1-2229406-A-G
• MyVariant Identifiers: chr1:g.2160845A>G (hg19) ; chr1:g.2229406A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2229406A>G , CM000663.2:g.2229406A>G	GRCh38
NC_000001.10:g.2160845A>G , CM000663.1:g.2160845A>G	GRCh37
NC_000001.9:g.2150705A>G	NCBI36
NG_013084.1:g.5712A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.137+1882A>G
ENST00000378536.5:c.640A>G MANE Select	ENSP00000367797.4:p.Ser214Gly
ENST00000378536.4:c.640A>G	ENSP00000367797.4:p.Ser214Gly
NM_003036.3:c.640A>G	NP_003027.1:p.Ser214Gly
XM_005244775.2:c.640A>G	XP_005244832.1:p.Ser214Gly
XM_005244775.3:c.640A>G	XP_005244832.1:p.Ser214Gly
NM_003036.4:c.640A>G MANE Select	NP_003027.1:p.Ser214Gly