Canonical Allele Identifier: CA2395758468
Gene: SLC25A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176915C= , CM000684.2:g.19176915C= GRCh38
NC_000022.10:g.19164428C= , CM000684.1:g.19164428C= GRCh37
NC_000022.9:g.17544428C= NCBI36
NG_033863.1:g.6949G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.562G= MANE Select ENSP00000215882.5:p.Val188=
ENST00000215882.9:c.562G= ENSP00000215882.5:p.Val188=
ENST00000451283.5:c.253G= ENSP00000401480.1:p.Val85=
ENST00000461267.1:n.708G=
ENST00000470922.5:n.704G=
NM_001256534.1:c.583G= NP_001243463.1:p.Val195=
NM_001287387.1:c.253G= NP_001274316.1:p.Val85=
NM_005984.4:c.562G= NP_005975.1:p.Val188=
NR_046298.2:n.613G=
NM_005984.5:c.562G= MANE Select NP_005975.1:p.Val188=
NM_001256534.2:c.583G= NP_001243463.1:p.Val195=
NM_001287387.2:c.253G= NP_001274316.1:p.Val85=
NR_046298.3:n.486G=