Canonical Allele Identifier: CA410633568
Gene: SLC25A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176168C>A , CM000684.2:g.19176168C>A GRCh38
NC_000022.10:g.19163681C>A , CM000684.1:g.19163681C>A GRCh37
NC_000022.9:g.17543681C>A NCBI36
NG_033863.1:g.7696G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.898G>T MANE Select ENSP00000215882.5:p.Val300Leu
ENST00000215882.9:c.898G>T ENSP00000215882.5:p.Val300Leu
ENST00000451283.5:c.589G>T ENSP00000401480.1:p.Val197Leu
ENST00000470922.5:n.1040G>T
NM_001256534.1:c.919G>T NP_001243463.1:p.Val307Leu
NM_001287387.1:c.589G>T NP_001274316.1:p.Val197Leu
NM_005984.4:c.898G>T NP_005975.1:p.Val300Leu
NR_046298.2:n.949G>T
NM_005984.5:c.898G>T MANE Select NP_005975.1:p.Val300Leu
NM_001256534.2:c.919G>T NP_001243463.1:p.Val307Leu
NM_001287387.2:c.589G>T NP_001274316.1:p.Val197Leu
NR_046298.3:n.822G>T