Canonical Allele Identifier: CA238762

Gene: SKI

Linked Data

• ClinVar Variation Id: 193248
• ClinVar RCV Id: RCV000225717 ; RCV000724502 ; RCV001001466 ; RCV002310742
• dbSNP Id: rs149642284
• ExAC: 1:2161003 C / T
• gnomAD v2: 1-2161003-C-T
• gnomAD v3: 1-2229564-C-T
• gnomAD v4: 1-2229564-C-T
• MyVariant Identifiers: chr1:g.2161003C>T (hg19) ; chr1:g.2229564C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2229564C>T , CM000663.2:g.2229564C>T	GRCh38
NC_000001.10:g.2161003C>T , CM000663.1:g.2161003C>T	GRCh37
NC_000001.9:g.2150863C>T	NCBI36
NG_013084.1:g.5870C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.137+2040C>T
ENST00000378536.5:c.798C>T MANE Select	ENSP00000367797.4:p.Ala266=
ENST00000378536.4:c.798C>T	ENSP00000367797.4:p.Ala266=
NM_003036.3:c.798C>T	NP_003027.1:p.Ala266=
XM_005244775.2:c.798C>T	XP_005244832.1:p.Ala266=
XM_005244775.3:c.798C>T	XP_005244832.1:p.Ala266=
NM_003036.4:c.798C>T MANE Select	NP_003027.1:p.Ala266=