Canonical Allele Identifier: CA410634119
Gene: SLC25A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176242A>G , CM000684.2:g.19176242A>G GRCh38
NC_000022.10:g.19163755A>G , CM000684.1:g.19163755A>G GRCh37
NC_000022.9:g.17543755A>G NCBI36
NG_033863.1:g.7622T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.824T>C MANE Select ENSP00000215882.5:p.Phe275Ser
ENST00000215882.9:c.824T>C ENSP00000215882.5:p.Phe275Ser
ENST00000451283.5:c.515T>C ENSP00000401480.1:p.Phe172Ser
ENST00000470922.5:n.966T>C
NM_001256534.1:c.845T>C NP_001243463.1:p.Phe282Ser
NM_001287387.1:c.515T>C NP_001274316.1:p.Phe172Ser
NM_005984.4:c.824T>C NP_005975.1:p.Phe275Ser
NR_046298.2:n.875T>C
NM_005984.5:c.824T>C MANE Select NP_005975.1:p.Phe275Ser
NM_001256534.2:c.845T>C NP_001243463.1:p.Phe282Ser
NM_001287387.2:c.515T>C NP_001274316.1:p.Phe172Ser
NR_046298.3:n.748T>C