Canonical Allele Identifier: CA302979

Gene: SKI

Linked Data

• ClinVar Variation Id: 139115
• ClinVar RCV Id: RCV000178187 ; RCV000999956 ; RCV002310709 ; RCV003311691
• dbSNP Id: rs114345135
• ExAC: 1:2235513 G / A
• gnomAD v2: 1-2235513-G-A
• gnomAD v3: 1-2304074-G-A
• gnomAD v4: 1-2304074-G-A
• MyVariant Identifiers: chr1:g.2235513G>A (hg19) ; chr1:g.2304074G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2304074G>A , CM000663.2:g.2304074G>A	GRCh38
NC_000001.10:g.2235513G>A , CM000663.1:g.2235513G>A	GRCh37
NC_000001.9:g.2225373G>A	NCBI36
NG_013084.1:g.80380G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378536.5:c.1446G>A MANE Select	ENSP00000367797.4:p.Ala482=
ENST00000378536.4:c.1446G>A	ENSP00000367797.4:p.Ala482=
ENST00000507179.1:n.429G>A
NM_003036.3:c.1446G>A	NP_003027.1:p.Ala482=
XM_005244775.2:c.1446G>A	XP_005244832.1:p.Ala482=
XM_005244776.3:c.576G>A	XP_005244833.1:p.Ala192=
XM_005244775.3:c.1446G>A	XP_005244832.1:p.Ala482=
XM_005244776.4:c.576G>A	XP_005244833.1:p.Ala192=
XM_017002128.1:c.954G>A	XP_016857617.1:p.Ala318=
NM_003036.4:c.1446G>A MANE Select	NP_003027.1:p.Ala482=