Canonical Allele Identifier: CA2395757923
Gene: SLC25A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176217C= , CM000684.2:g.19176217C= GRCh38
NC_000022.10:g.19163730C= , CM000684.1:g.19163730C= GRCh37
NC_000022.9:g.17543730C= NCBI36
NG_033863.1:g.7647G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.849G= MANE Select ENSP00000215882.5:p.Leu283=
ENST00000215882.9:c.849G= ENSP00000215882.5:p.Leu283=
ENST00000451283.5:c.540G= ENSP00000401480.1:p.Leu180=
ENST00000470922.5:n.991G=
NM_001256534.1:c.870G= NP_001243463.1:p.Leu290=
NM_001287387.1:c.540G= NP_001274316.1:p.Leu180=
NM_005984.4:c.849G= NP_005975.1:p.Leu283=
NR_046298.2:n.900G=
NM_005984.5:c.849G= MANE Select NP_005975.1:p.Leu283=
NM_001256534.2:c.870G= NP_001243463.1:p.Leu290=
NM_001287387.2:c.540G= NP_001274316.1:p.Leu180=
NR_046298.3:n.773G=