Canonical Allele Identifier: CA319952

Gene: SKI

Linked Data

• ClinVar Variation Id: 213692
• ClinVar RCV Id: RCV000195594 ; RCV000227742 ; RCV000514089 ; RCV002315616
• dbSNP Id: rs141862996
• ExAC: 1:2234824 C / T
• gnomAD v2: 1-2234824-C-T
• gnomAD v3: 1-2303385-C-T
• gnomAD v4: 1-2303385-C-T
• MyVariant Identifiers: chr1:g.2234824C>T (hg19) ; chr1:g.2303385C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303385C>T , CM000663.2:g.2303385C>T	GRCh38
NC_000001.10:g.2234824C>T , CM000663.1:g.2234824C>T	GRCh37
NC_000001.9:g.2224684C>T	NCBI36
NG_013084.1:g.79691C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.364C>T
ENST00000378536.5:c.1196C>T MANE Select	ENSP00000367797.4:p.Ala399Val
ENST00000378536.4:c.1196C>T	ENSP00000367797.4:p.Ala399Val
NM_003036.3:c.1196C>T	NP_003027.1:p.Ala399Val
XM_005244775.2:c.1196C>T	XP_005244832.1:p.Ala399Val
XM_005244776.3:c.326C>T	XP_005244833.1:p.Ala109Val
XM_005244775.3:c.1196C>T	XP_005244832.1:p.Ala399Val
XM_005244776.4:c.326C>T	XP_005244833.1:p.Ala109Val
XM_017002128.1:c.704C>T	XP_016857617.1:p.Ala235Val
NM_003036.4:c.1196C>T MANE Select	NP_003027.1:p.Ala399Val