Canonical Allele Identifier: CA130978

Gene: SLC25A1

Linked Data

• ClinVar Variation Id: 42193
• ClinVar RCV Id: RCV001801241 ; RCV003128572
• dbSNP Id: rs431905509
• gnomAD v4: 22-19176222-G-C
• MyVariant Identifiers: chr22:g.19163735G>C (hg19) ; chr22:g.19176222G>C (hg38)
• PubMed: PMID:23561848

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176222G>C , CM000684.2:g.19176222G>C	GRCh38
NC_000022.10:g.19163735G>C , CM000684.1:g.19163735G>C	GRCh37
NC_000022.9:g.17543735G>C	NCBI36
NG_033863.1:g.7642C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.844C>G MANE Select	ENSP00000215882.5:p.Arg282Gly
ENST00000215882.9:c.844C>G	ENSP00000215882.5:p.Arg282Gly
ENST00000451283.5:c.535C>G	ENSP00000401480.1:p.Arg179Gly
ENST00000470922.5:n.986C>G
NM_001256534.1:c.865C>G	NP_001243463.1:p.Arg289Gly
NM_001287387.1:c.535C>G	NP_001274316.1:p.Arg179Gly
NM_005984.4:c.844C>G	NP_005975.1:p.Arg282Gly
NR_046298.2:n.895C>G
NM_005984.5:c.844C>G MANE Select	NP_005975.1:p.Arg282Gly
NM_001256534.2:c.865C>G	NP_001243463.1:p.Arg289Gly
NM_001287387.2:c.535C>G	NP_001274316.1:p.Arg179Gly
NR_046298.3:n.768C>G