Canonical Allele Identifier: CA410636351
Gene: SLC25A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176636G>T , CM000684.2:g.19176636G>T GRCh38
NC_000022.10:g.19164149G>T , CM000684.1:g.19164149G>T GRCh37
NC_000022.9:g.17544149G>T NCBI36
NG_033863.1:g.7228C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.689C>A MANE Select ENSP00000215882.5:p.Ala230Glu
ENST00000215882.9:c.689C>A ENSP00000215882.5:p.Ala230Glu
ENST00000451283.5:c.380C>A ENSP00000401480.1:p.Ala127Glu
ENST00000470922.5:n.831C>A
NM_001256534.1:c.710C>A NP_001243463.1:p.Ala237Glu
NM_001287387.1:c.380C>A NP_001274316.1:p.Ala127Glu
NM_005984.4:c.689C>A NP_005975.1:p.Ala230Glu
NR_046298.2:n.740C>A
NM_005984.5:c.689C>A MANE Select NP_005975.1:p.Ala230Glu
NM_001256534.2:c.710C>A NP_001243463.1:p.Ala237Glu
NM_001287387.2:c.380C>A NP_001274316.1:p.Ala127Glu
NR_046298.3:n.613C>A