Canonical Allele Identifier: CA2395758246
Gene: SLC25A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176586G= , CM000684.2:g.19176586G= GRCh38
NC_000022.10:g.19164099G= , CM000684.1:g.19164099G= GRCh37
NC_000022.9:g.17544099G= NCBI36
NG_033863.1:g.7278C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.739C= MANE Select ENSP00000215882.5:p.Arg247=
ENST00000215882.9:c.739C= ENSP00000215882.5:p.Arg247=
ENST00000451283.5:c.430C= ENSP00000401480.1:p.Arg144=
ENST00000470922.5:n.881C=
NM_001256534.1:c.760C= NP_001243463.1:p.Arg254=
NM_001287387.1:c.430C= NP_001274316.1:p.Arg144=
NM_005984.4:c.739C= NP_005975.1:p.Arg247=
NR_046298.2:n.790C=
NM_005984.5:c.739C= MANE Select NP_005975.1:p.Arg247=
NM_001256534.2:c.760C= NP_001243463.1:p.Arg254=
NM_001287387.2:c.430C= NP_001274316.1:p.Arg144=
NR_046298.3:n.663C=