Canonical Allele Identifier: CA536666

Gene: SKI

Linked Data

• ClinVar Variation Id: 263895
• ClinVar RCV Id: RCV000474123 ; RCV001711845 ; RCV002310889
• dbSNP Id: rs544709718
• ExAC: 1:2235376 G / A
• gnomAD v2: 1-2235376-G-A
• gnomAD v3: 1-2303937-G-A
• gnomAD v4: 1-2303937-G-A
• MyVariant Identifiers: chr1:g.2235376G>A (hg19) ; chr1:g.2303937G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303937G>A , CM000663.2:g.2303937G>A	GRCh38
NC_000001.10:g.2235376G>A , CM000663.1:g.2235376G>A	GRCh37
NC_000001.9:g.2225236G>A	NCBI36
NG_013084.1:g.80243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378536.5:c.1309G>A MANE Select	ENSP00000367797.4:p.Ala437Thr
ENST00000378536.4:c.1309G>A	ENSP00000367797.4:p.Ala437Thr
ENST00000507179.1:n.292G>A
NM_003036.3:c.1309G>A	NP_003027.1:p.Ala437Thr
XM_005244775.2:c.1309G>A	XP_005244832.1:p.Ala437Thr
XM_005244776.3:c.439G>A	XP_005244833.1:p.Ala147Thr
XM_005244775.3:c.1309G>A	XP_005244832.1:p.Ala437Thr
XM_005244776.4:c.439G>A	XP_005244833.1:p.Ala147Thr
XM_017002128.1:c.817G>A	XP_016857617.1:p.Ala273Thr
NM_003036.4:c.1309G>A MANE Select	NP_003027.1:p.Ala437Thr