Canonical Allele Identifier: CA410634053

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176234-C-A
• MyVariant Identifiers: chr22:g.19163747C>A (hg19) ; chr22:g.19176234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176234C>A , CM000684.2:g.19176234C>A	GRCh38
NC_000022.10:g.19163747C>A , CM000684.1:g.19163747C>A	GRCh37
NC_000022.9:g.17543747C>A	NCBI36
NG_033863.1:g.7630G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.832G>T MANE Select	ENSP00000215882.5:p.Gly278Cys
ENST00000215882.9:c.832G>T	ENSP00000215882.5:p.Gly278Cys
ENST00000451283.5:c.523G>T	ENSP00000401480.1:p.Gly175Cys
ENST00000470922.5:n.974G>T
NM_001256534.1:c.853G>T	NP_001243463.1:p.Gly285Cys
NM_001287387.1:c.523G>T	NP_001274316.1:p.Gly175Cys
NM_005984.4:c.832G>T	NP_005975.1:p.Gly278Cys
NR_046298.2:n.883G>T
NM_005984.5:c.832G>T MANE Select	NP_005975.1:p.Gly278Cys
NM_001256534.2:c.853G>T	NP_001243463.1:p.Gly285Cys
NM_001287387.2:c.523G>T	NP_001274316.1:p.Gly175Cys
NR_046298.3:n.756G>T