Canonical Allele Identifier: CA260608

Gene: SKI

Linked Data

• ClinVar Variation Id: 37261
• ClinVar RCV Id: RCV000030819 ; RCV000200686 ; RCV000624509
• dbSNP Id: rs387907306
• gnomAD v4: 1-2228866-G-A
• MyVariant Identifiers: chr1:g.2160305G>A (hg19) ; chr1:g.2228866G>A (hg38)
• PubMed: PMID:15884042 ; PMID:23023332 ; PMID:23103230 ; PMID:24736733 ; PMID:27146836

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2228866G>A , CM000663.2:g.2228866G>A	GRCh38
NC_000001.10:g.2160305G>A , CM000663.1:g.2160305G>A	GRCh37
NC_000001.9:g.2150165G>A	NCBI36
NG_013084.1:g.5172G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.137+1342G>A
ENST00000378536.5:c.100G>A MANE Select	ENSP00000367797.4:p.Gly34Ser
ENST00000378536.4:c.100G>A	ENSP00000367797.4:p.Gly34Ser
NM_003036.3:c.100G>A	NP_003027.1:p.Gly34Ser
XM_005244775.2:c.100G>A	XP_005244832.1:p.Gly34Ser
XM_005244775.3:c.100G>A	XP_005244832.1:p.Gly34Ser
NM_003036.4:c.100G>A MANE Select	NP_003027.1:p.Gly34Ser