Canonical Allele Identifier: CA321796

Gene: SKI

Linked Data

• ClinVar Variation Id: 213667
• ClinVar RCV Id: RCV000197343 ; RCV000638889 ; RCV004020376
• dbSNP Id: rs376736872
• ExAC: 1:2234790 G / A
• gnomAD v2: 1-2234790-G-A
• gnomAD v3: 1-2303351-G-A
• gnomAD v4: 1-2303351-G-A
• MyVariant Identifiers: chr1:g.2234790G>A (hg19) ; chr1:g.2303351G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303351G>A , CM000663.2:g.2303351G>A	GRCh38
NC_000001.10:g.2234790G>A , CM000663.1:g.2234790G>A	GRCh37
NC_000001.9:g.2224650G>A	NCBI36
NG_013084.1:g.79657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.330G>A
ENST00000378536.5:c.1162G>A MANE Select	ENSP00000367797.4:p.Ala388Thr
ENST00000378536.4:c.1162G>A	ENSP00000367797.4:p.Ala388Thr
ENST00000478223.2:n.269G>A
NM_003036.3:c.1162G>A	NP_003027.1:p.Ala388Thr
XM_005244775.2:c.1162G>A	XP_005244832.1:p.Ala388Thr
XM_005244776.3:c.292G>A	XP_005244833.1:p.Ala98Thr
XM_005244775.3:c.1162G>A	XP_005244832.1:p.Ala388Thr
XM_005244776.4:c.292G>A	XP_005244833.1:p.Ala98Thr
XM_017002128.1:c.670G>A	XP_016857617.1:p.Ala224Thr
NM_003036.4:c.1162G>A MANE Select	NP_003027.1:p.Ala388Thr