Canonical Allele Identifier: CA410633768
Gene: SLC25A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176186A>C , CM000684.2:g.19176186A>C GRCh38
NC_000022.10:g.19163699A>C , CM000684.1:g.19163699A>C GRCh37
NC_000022.9:g.17543699A>C NCBI36
NG_033863.1:g.7678T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.880T>G MANE Select ENSP00000215882.5:p.Phe294Val
ENST00000215882.9:c.880T>G ENSP00000215882.5:p.Phe294Val
ENST00000451283.5:c.571T>G ENSP00000401480.1:p.Phe191Val
ENST00000470922.5:n.1022T>G
NM_001256534.1:c.901T>G NP_001243463.1:p.Phe301Val
NM_001287387.1:c.571T>G NP_001274316.1:p.Phe191Val
NM_005984.4:c.880T>G NP_005975.1:p.Phe294Val
NR_046298.2:n.931T>G
NM_005984.5:c.880T>G MANE Select NP_005975.1:p.Phe294Val
NM_001256534.2:c.901T>G NP_001243463.1:p.Phe301Val
NM_001287387.2:c.571T>G NP_001274316.1:p.Phe191Val
NR_046298.3:n.804T>G