Canonical Allele Identifier: CA512978574
Gene: SLC25A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19163757T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176244T>G , CM000684.2:g.19176244T>G GRCh38
NC_000022.10:g.19163757T>G , CM000684.1:g.19163757T>G GRCh37
NC_000022.9:g.17543757T>G NCBI36
NG_033863.1:g.7620A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.822A>C MANE Select ENSP00000215882.5:p.Ala274=
ENST00000215882.9:c.822A>C ENSP00000215882.5:p.Ala274=
ENST00000451283.5:c.513A>C ENSP00000401480.1:p.Ala171=
ENST00000470922.5:n.964A>C
NM_001256534.1:c.843A>C NP_001243463.1:p.Ala281=
NM_001287387.1:c.513A>C NP_001274316.1:p.Ala171=
NM_005984.4:c.822A>C NP_005975.1:p.Ala274=
NR_046298.2:n.873A>C
NM_005984.5:c.822A>C MANE Select NP_005975.1:p.Ala274=
NM_001256534.2:c.843A>C NP_001243463.1:p.Ala281=
NM_001287387.2:c.513A>C NP_001274316.1:p.Ala171=
NR_046298.3:n.746A>C