Canonical Allele Identifier: CA410636528
Gene: SLC25A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176654C>A , CM000684.2:g.19176654C>A GRCh38
NC_000022.10:g.19164167C>A , CM000684.1:g.19164167C>A GRCh37
NC_000022.9:g.17544167C>A NCBI36
NG_033863.1:g.7210G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.671G>T MANE Select ENSP00000215882.5:p.Gly224Val
ENST00000215882.9:c.671G>T ENSP00000215882.5:p.Gly224Val
ENST00000451283.5:c.362G>T ENSP00000401480.1:p.Gly121Val
ENST00000470922.5:n.813G>T
NM_001256534.1:c.692G>T NP_001243463.1:p.Gly231Val
NM_001287387.1:c.362G>T NP_001274316.1:p.Gly121Val
NM_005984.4:c.671G>T NP_005975.1:p.Gly224Val
NR_046298.2:n.722G>T
NM_005984.5:c.671G>T MANE Select NP_005975.1:p.Gly224Val
NM_001256534.2:c.692G>T NP_001243463.1:p.Gly231Val
NM_001287387.2:c.362G>T NP_001274316.1:p.Gly121Val
NR_046298.3:n.595G>T