Canonical Allele Identifier: CA216411
Gene: SLC25A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64563
ClinVar RCV Id: RCV000054750
dbSNP Id: rs200222886

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176628C>T , CM000684.2:g.19176628C>T GRCh38
NC_000022.10:g.19164141C>T , CM000684.1:g.19164141C>T GRCh37
NC_000022.9:g.17544141C>T NCBI36
NG_033863.1:g.7236G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.697G>A MANE Select ENSP00000215882.5:p.Ala233Thr
ENST00000215882.9:c.697G>A ENSP00000215882.5:p.Ala233Thr
ENST00000451283.5:c.388G>A ENSP00000401480.1:p.Ala130Thr
ENST00000470922.5:n.839G>A
NM_001256534.1:c.718G>A NP_001243463.1:p.Ala240Thr
NM_001287387.1:c.388G>A NP_001274316.1:p.Ala130Thr
NM_005984.4:c.697G>A NP_005975.1:p.Ala233Thr
NR_046298.2:n.748G>A
NM_005984.5:c.697G>A MANE Select NP_005975.1:p.Ala233Thr
NM_001256534.2:c.718G>A NP_001243463.1:p.Ala240Thr
NM_001287387.2:c.388G>A NP_001274316.1:p.Ala130Thr
NR_046298.3:n.621G>A