Canonical Allele Identifier: CA513188147
Gene: SLC25A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19165309C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19177796C>G , CM000684.2:g.19177796C>G GRCh38
NC_000022.10:g.19165309C>G , CM000684.1:g.19165309C>G GRCh37
NC_000022.9:g.17545309C>G NCBI36
NG_033805.1:g.118921G>C
NG_033863.1:g.6068G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.372G>C MANE Select ENSP00000215882.5:p.Gly124=
ENST00000215882.9:c.372G>C ENSP00000215882.5:p.Gly124=
ENST00000451283.5:c.63G>C ENSP00000401480.1:p.Gly21=
ENST00000461267.1:n.518G>C
ENST00000470922.5:n.514G>C
NM_001256534.1:c.393G>C NP_001243463.1:p.Gly131=
NM_001287387.1:c.63G>C NP_001274316.1:p.Gly21=
NM_005984.4:c.372G>C NP_005975.1:p.Gly124=
NR_046298.2:n.492+146G>C
NM_005984.5:c.372G>C MANE Select NP_005975.1:p.Gly124=
NM_001256534.2:c.393G>C NP_001243463.1:p.Gly131=
NM_001287387.2:c.63G>C NP_001274316.1:p.Gly21=
NR_046298.3:n.365+146G>C