Canonical Allele Identifier: CA410635894

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782457807
• gnomAD v2: 22-19164099-G-C
• gnomAD v4: 22-19176586-G-C
• MyVariant Identifiers: chr22:g.19164099G>C (hg19) ; chr22:g.19176586G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176586G>C , CM000684.2:g.19176586G>C	GRCh38
NC_000022.10:g.19164099G>C , CM000684.1:g.19164099G>C	GRCh37
NC_000022.9:g.17544099G>C	NCBI36
NG_033863.1:g.7278C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.739C>G MANE Select	ENSP00000215882.5:p.Arg247Gly
ENST00000215882.9:c.739C>G	ENSP00000215882.5:p.Arg247Gly
ENST00000451283.5:c.430C>G	ENSP00000401480.1:p.Arg144Gly
ENST00000470922.5:n.881C>G
NM_001256534.1:c.760C>G	NP_001243463.1:p.Arg254Gly
NM_001287387.1:c.430C>G	NP_001274316.1:p.Arg144Gly
NM_005984.4:c.739C>G	NP_005975.1:p.Arg247Gly
NR_046298.2:n.790C>G
NM_005984.5:c.739C>G MANE Select	NP_005975.1:p.Arg247Gly
NM_001256534.2:c.760C>G	NP_001243463.1:p.Arg254Gly
NM_001287387.2:c.430C>G	NP_001274316.1:p.Arg144Gly
NR_046298.3:n.663C>G