Canonical Allele Identifier: CA513188381
Gene: SLC25A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19164145G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176632G>T , CM000684.2:g.19176632G>T GRCh38
NC_000022.10:g.19164145G>T , CM000684.1:g.19164145G>T GRCh37
NC_000022.9:g.17544145G>T NCBI36
NG_033863.1:g.7232C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.693C>A MANE Select ENSP00000215882.5:p.Gly231=
ENST00000215882.9:c.693C>A ENSP00000215882.5:p.Gly231=
ENST00000451283.5:c.384C>A ENSP00000401480.1:p.Gly128=
ENST00000470922.5:n.835C>A
NM_001256534.1:c.714C>A NP_001243463.1:p.Gly238=
NM_001287387.1:c.384C>A NP_001274316.1:p.Gly128=
NM_005984.4:c.693C>A NP_005975.1:p.Gly231=
NR_046298.2:n.744C>A
NM_005984.5:c.693C>A MANE Select NP_005975.1:p.Gly231=
NM_001256534.2:c.714C>A NP_001243463.1:p.Gly238=
NM_001287387.2:c.384C>A NP_001274316.1:p.Gly128=
NR_046298.3:n.617C>A