Canonical Allele Identifier: CA10097332

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782353548
• ExAC: 22:19164133 G / A
• gnomAD v2: 22-19164133-G-A
• gnomAD v4: 22-19176620-G-A
• MyVariant Identifiers: chr22:g.19164133G>A (hg19) ; chr22:g.19176620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176620G>A , CM000684.2:g.19176620G>A	GRCh38
NC_000022.10:g.19164133G>A , CM000684.1:g.19164133G>A	GRCh37
NC_000022.9:g.17544133G>A	NCBI36
NG_033863.1:g.7244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.705C>T MANE Select	ENSP00000215882.5:p.Val235=
ENST00000215882.9:c.705C>T	ENSP00000215882.5:p.Val235=
ENST00000451283.5:c.396C>T	ENSP00000401480.1:p.Val132=
ENST00000470922.5:n.847C>T
NM_001256534.1:c.726C>T	NP_001243463.1:p.Val242=
NM_001287387.1:c.396C>T	NP_001274316.1:p.Val132=
NM_005984.4:c.705C>T	NP_005975.1:p.Val235=
NR_046298.2:n.756C>T
NM_005984.5:c.705C>T MANE Select	NP_005975.1:p.Val235=
NM_001256534.2:c.726C>T	NP_001243463.1:p.Val242=
NM_001287387.2:c.396C>T	NP_001274316.1:p.Val132=
NR_046298.3:n.629C>T