Canonical Allele Identifier: CA513188136
Gene: SLC25A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19164462C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176949C>A , CM000684.2:g.19176949C>A GRCh38
NC_000022.10:g.19164462C>A , CM000684.1:g.19164462C>A GRCh37
NC_000022.9:g.17544462C>A NCBI36
NG_033863.1:g.6915G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.528G>T MANE Select ENSP00000215882.5:p.Gly176=
ENST00000215882.9:c.528G>T ENSP00000215882.5:p.Gly176=
ENST00000451283.5:c.219G>T ENSP00000401480.1:p.Gly73=
ENST00000461267.1:n.674G>T
ENST00000470922.5:n.670G>T
NM_001256534.1:c.549G>T NP_001243463.1:p.Gly183=
NM_001287387.1:c.219G>T NP_001274316.1:p.Gly73=
NM_005984.4:c.528G>T NP_005975.1:p.Gly176=
NR_046298.2:n.579G>T
NM_005984.5:c.528G>T MANE Select NP_005975.1:p.Gly176=
NM_001256534.2:c.549G>T NP_001243463.1:p.Gly183=
NM_001287387.2:c.219G>T NP_001274316.1:p.Gly73=
NR_046298.3:n.452G>T