Canonical Allele Identifier: CA410636233
Gene: SLC25A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176622C>A , CM000684.2:g.19176622C>A GRCh38
NC_000022.10:g.19164135C>A , CM000684.1:g.19164135C>A GRCh37
NC_000022.9:g.17544135C>A NCBI36
NG_033863.1:g.7242G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.703G>T MANE Select ENSP00000215882.5:p.Val235Phe
ENST00000215882.9:c.703G>T ENSP00000215882.5:p.Val235Phe
ENST00000451283.5:c.394G>T ENSP00000401480.1:p.Val132Phe
ENST00000470922.5:n.845G>T
NM_001256534.1:c.724G>T NP_001243463.1:p.Val242Phe
NM_001287387.1:c.394G>T NP_001274316.1:p.Val132Phe
NM_005984.4:c.703G>T NP_005975.1:p.Val235Phe
NR_046298.2:n.754G>T
NM_005984.5:c.703G>T MANE Select NP_005975.1:p.Val235Phe
NM_001256534.2:c.724G>T NP_001243463.1:p.Val242Phe
NM_001287387.2:c.394G>T NP_001274316.1:p.Val132Phe
NR_046298.3:n.627G>T