Canonical Allele Identifier: CA2395758305
Gene: SLC25A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176626G= , CM000684.2:g.19176626G= GRCh38
NC_000022.10:g.19164139G= , CM000684.1:g.19164139G= GRCh37
NC_000022.9:g.17544139G= NCBI36
NG_033863.1:g.7238C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.699C= MANE Select ENSP00000215882.5:p.Ala233=
ENST00000215882.9:c.699C= ENSP00000215882.5:p.Ala233=
ENST00000451283.5:c.390C= ENSP00000401480.1:p.Ala130=
ENST00000470922.5:n.841C=
NM_001256534.1:c.720C= NP_001243463.1:p.Ala240=
NM_001287387.1:c.390C= NP_001274316.1:p.Ala130=
NM_005984.4:c.699C= NP_005975.1:p.Ala233=
NR_046298.2:n.750C=
NM_005984.5:c.699C= MANE Select NP_005975.1:p.Ala233=
NM_001256534.2:c.720C= NP_001243463.1:p.Ala240=
NM_001287387.2:c.390C= NP_001274316.1:p.Ala130=
NR_046298.3:n.623C=