Canonical Allele Identifier: CA410637185
Gene: SLC25A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176884C>A , CM000684.2:g.19176884C>A GRCh38
NC_000022.10:g.19164397C>A , CM000684.1:g.19164397C>A GRCh37
NC_000022.9:g.17544397C>A NCBI36
NG_033863.1:g.6980G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.593G>T MANE Select ENSP00000215882.5:p.Arg198Leu
ENST00000215882.9:c.593G>T ENSP00000215882.5:p.Arg198Leu
ENST00000451283.5:c.284G>T ENSP00000401480.1:p.Arg95Leu
ENST00000461267.1:n.739G>T
ENST00000470922.5:n.735G>T
NM_001256534.1:c.614G>T NP_001243463.1:p.Arg205Leu
NM_001287387.1:c.284G>T NP_001274316.1:p.Arg95Leu
NM_005984.4:c.593G>T NP_005975.1:p.Arg198Leu
NR_046298.2:n.644G>T
NM_005984.5:c.593G>T MANE Select NP_005975.1:p.Arg198Leu
NM_001256534.2:c.614G>T NP_001243463.1:p.Arg205Leu
NM_001287387.2:c.284G>T NP_001274316.1:p.Arg95Leu
NR_046298.3:n.517G>T