Canonical Allele Identifier: CA512978427
Gene: SLC25A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19163727G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176214G>T , CM000684.2:g.19176214G>T GRCh38
NC_000022.10:g.19163727G>T , CM000684.1:g.19163727G>T GRCh37
NC_000022.9:g.17543727G>T NCBI36
NG_033863.1:g.7650C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.852C>A MANE Select ENSP00000215882.5:p.Gly284=
ENST00000215882.9:c.852C>A ENSP00000215882.5:p.Gly284=
ENST00000451283.5:c.543C>A ENSP00000401480.1:p.Gly181=
ENST00000470922.5:n.994C>A
NM_001256534.1:c.873C>A NP_001243463.1:p.Gly291=
NM_001287387.1:c.543C>A NP_001274316.1:p.Gly181=
NM_005984.4:c.852C>A NP_005975.1:p.Gly284=
NR_046298.2:n.903C>A
NM_005984.5:c.852C>A MANE Select NP_005975.1:p.Gly284=
NM_001256534.2:c.873C>A NP_001243463.1:p.Gly291=
NM_001287387.2:c.543C>A NP_001274316.1:p.Gly181=
NR_046298.3:n.776C>A