Canonical Allele Identifier: CA130980
Gene: SLC25A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42195
ClinVar RCV Id: RCV001801243
dbSNP Id: rs431905510
ExAC: 22:19163734 C / T
gnomAD v2: 22-19163734-C-T
gnomAD v3: 22-19176221-C-T
gnomAD v4: 22-19176221-C-T
MyVariant Identifiers: chr22:g.19163734C>T (hg19) chr22:g.19176221C>T (hg38)
PubMed: PMID:23393310
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176221C>T , CM000684.2:g.19176221C>T GRCh38
NC_000022.10:g.19163734C>T , CM000684.1:g.19163734C>T GRCh37
NC_000022.9:g.17543734C>T NCBI36
NG_033863.1:g.7643G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.845G>A MANE Select ENSP00000215882.5:p.Arg282His
ENST00000215882.9:c.845G>A ENSP00000215882.5:p.Arg282His
ENST00000451283.5:c.536G>A ENSP00000401480.1:p.Arg179His
ENST00000470922.5:n.987G>A
NM_001256534.1:c.866G>A NP_001243463.1:p.Arg289His
NM_001287387.1:c.536G>A NP_001274316.1:p.Arg179His
NM_005984.4:c.845G>A NP_005975.1:p.Arg282His
NR_046298.2:n.896G>A
NM_005984.5:c.845G>A MANE Select NP_005975.1:p.Arg282His
NM_001256534.2:c.866G>A NP_001243463.1:p.Arg289His
NM_001287387.2:c.536G>A NP_001274316.1:p.Arg179His
NR_046298.3:n.769G>A
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