Canonical Allele Identifier: CA2818380972
Gene: SLC25A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176557T>G , CM000684.2:g.19176557T>G GRCh38
NC_000022.10:g.19164070T>G , CM000684.1:g.19164070T>G GRCh37
NC_000022.9:g.17544070T>G NCBI36
NG_033863.1:g.7307A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.747+21A>C MANE Select ENSP00000215882.5:n.747+21A>C
ENST00000215882.9:c.747+21A>C ENSP00000215882.5:n.747+21A>C
ENST00000451283.5:c.438+21A>C ENSP00000401480.1:n.438+21A>C
ENST00000470922.5:n.889+21A>C
NM_001256534.1:c.768+21A>C NP_001243463.1:n.768+21A>C
NM_001287387.1:c.438+21A>C NP_001274316.1:n.438+21A>C
NM_005984.4:c.747+21A>C NP_005975.1:n.747+21A>C
NR_046298.2:n.798+21A>C
NM_005984.5:c.747+21A>C MANE Select NP_005975.1:n.747+21A>C
NM_001256534.2:c.768+21A>C NP_001243463.1:n.768+21A>C
NM_001287387.2:c.438+21A>C NP_001274316.1:n.438+21A>C
NR_046298.3:n.671+21A>C