Canonical Allele Identifier: CA2577642936
Gene: SLC25A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176334G>C , CM000684.2:g.19176334G>C GRCh38
NC_000022.10:g.19163847G>C , CM000684.1:g.19163847G>C GRCh37
NC_000022.9:g.17543847G>C NCBI36
NG_033863.1:g.7530C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.821+87C>G MANE Select ENSP00000215882.5:n.821+87C>G
ENST00000215882.9:c.821+87C>G ENSP00000215882.5:n.821+87C>G
ENST00000451283.5:c.512+87C>G ENSP00000401480.1:n.512+87C>G
ENST00000470922.5:n.963+87C>G
NM_001256534.1:c.842+87C>G NP_001243463.1:n.842+87C>G
NM_001287387.1:c.512+87C>G NP_001274316.1:n.512+87C>G
NM_005984.4:c.821+87C>G NP_005975.1:n.821+87C>G
NR_046298.2:n.872+87C>G
NM_005984.5:c.821+87C>G MANE Select NP_005975.1:n.821+87C>G
NM_001256534.2:c.842+87C>G NP_001243463.1:n.842+87C>G
NM_001287387.2:c.512+87C>G NP_001274316.1:n.512+87C>G
NR_046298.3:n.745+87C>G