Canonical Allele Identifier: CA410636336

Gene: SLC25A1

Linked Data

• dbSNP Id: rs2083964985
• gnomAD v4: 22-19176634-C-G
• MyVariant Identifiers: chr22:g.19164147C>G (hg19) ; chr22:g.19176634C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176634C>G , CM000684.2:g.19176634C>G	GRCh38
NC_000022.10:g.19164147C>G , CM000684.1:g.19164147C>G	GRCh37
NC_000022.9:g.17544147C>G	NCBI36
NG_033863.1:g.7230G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.691G>C MANE Select	ENSP00000215882.5:p.Gly231Arg
ENST00000215882.9:c.691G>C	ENSP00000215882.5:p.Gly231Arg
ENST00000451283.5:c.382G>C	ENSP00000401480.1:p.Gly128Arg
ENST00000470922.5:n.833G>C
NM_001256534.1:c.712G>C	NP_001243463.1:p.Gly238Arg
NM_001287387.1:c.382G>C	NP_001274316.1:p.Gly128Arg
NM_005984.4:c.691G>C	NP_005975.1:p.Gly231Arg
NR_046298.2:n.742G>C
NM_005984.5:c.691G>C MANE Select	NP_005975.1:p.Gly231Arg
NM_001256534.2:c.712G>C	NP_001243463.1:p.Gly238Arg
NM_001287387.2:c.382G>C	NP_001274316.1:p.Gly128Arg
NR_046298.3:n.615G>C