Canonical Allele Identifier: CA512978921
Gene: SLC25A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19163986G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176473G>T , CM000684.2:g.19176473G>T GRCh38
NC_000022.10:g.19163986G>T , CM000684.1:g.19163986G>T GRCh37
NC_000022.9:g.17543986G>T NCBI36
NG_033863.1:g.7391C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.769C>A MANE Select ENSP00000215882.5:p.Arg257=
ENST00000215882.9:c.769C>A ENSP00000215882.5:p.Arg257=
ENST00000451283.5:c.460C>A ENSP00000401480.1:p.Arg154=
ENST00000470922.5:n.911C>A
NM_001256534.1:c.790C>A NP_001243463.1:p.Arg264=
NM_001287387.1:c.460C>A NP_001274316.1:p.Arg154=
NM_005984.4:c.769C>A NP_005975.1:p.Arg257=
NR_046298.2:n.820C>A
NM_005984.5:c.769C>A MANE Select NP_005975.1:p.Arg257=
NM_001256534.2:c.790C>A NP_001243463.1:p.Arg264=
NM_001287387.2:c.460C>A NP_001274316.1:p.Arg154=
NR_046298.3:n.693C>A