Canonical Allele Identifier: CA513188390
Gene: SLC25A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19164154A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176641A>G , CM000684.2:g.19176641A>G GRCh38
NC_000022.10:g.19164154A>G , CM000684.1:g.19164154A>G GRCh37
NC_000022.9:g.17544154A>G NCBI36
NG_033863.1:g.7223T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.684T>C MANE Select ENSP00000215882.5:p.Ala228=
ENST00000215882.9:c.684T>C ENSP00000215882.5:p.Ala228=
ENST00000451283.5:c.375T>C ENSP00000401480.1:p.Ala125=
ENST00000470922.5:n.826T>C
NM_001256534.1:c.705T>C NP_001243463.1:p.Ala235=
NM_001287387.1:c.375T>C NP_001274316.1:p.Ala125=
NM_005984.4:c.684T>C NP_005975.1:p.Ala228=
NR_046298.2:n.735T>C
NM_005984.5:c.684T>C MANE Select NP_005975.1:p.Ala228=
NM_001256534.2:c.705T>C NP_001243463.1:p.Ala235=
NM_001287387.2:c.375T>C NP_001274316.1:p.Ala125=
NR_046298.3:n.608T>C