Canonical Allele Identifier: CA319823

Gene: SKI

Linked Data

• ClinVar Variation Id: 213695
• ClinVar RCV Id: RCV000195482 ; RCV000638898 ; RCV002399731 ; RCV003456375 ; RCV003907725
• dbSNP Id: rs61735580
• ExAC: 1:2235785 G / A
• gnomAD v2: 1-2235785-G-A
• gnomAD v3: 1-2304346-G-A
• gnomAD v4: 1-2304346-G-A
• MyVariant Identifiers: chr1:g.2235785G>A (hg19) ; chr1:g.2304346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2304346G>A , CM000663.2:g.2304346G>A	GRCh38
NC_000001.10:g.2235785G>A , CM000663.1:g.2235785G>A	GRCh37
NC_000001.9:g.2225645G>A	NCBI36
NG_013084.1:g.80652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378536.5:c.1528G>A MANE Select	ENSP00000367797.4:p.Ala510Thr
ENST00000378536.4:c.1528G>A	ENSP00000367797.4:p.Ala510Thr
ENST00000507179.1:n.517G>A
NM_003036.3:c.1528G>A	NP_003027.1:p.Ala510Thr
XM_005244775.2:c.1534G>A	XP_005244832.1:p.Ala512Thr
XM_005244776.3:c.664G>A	XP_005244833.1:p.Ala222Thr
XM_005244775.3:c.1534G>A	XP_005244832.1:p.Ala512Thr
XM_005244776.4:c.664G>A	XP_005244833.1:p.Ala222Thr
XM_017002128.1:c.1042G>A	XP_016857617.1:p.Ala348Thr
NM_003036.4:c.1528G>A MANE Select	NP_003027.1:p.Ala510Thr