Canonical Allele Identifier: CA2395757972

Gene: SLC25A1

Linked Data

• dbSNP Id: rs2083958940
• gnomAD v4: 22-19176316-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176316A>T , CM000684.2:g.19176316A>T	GRCh38
NC_000022.10:g.19163829A>T , CM000684.1:g.19163829A>T	GRCh37
NC_000022.9:g.17543829A>T	NCBI36
NG_033863.1:g.7548T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.822-72T>A MANE Select	ENSP00000215882.5:n.822-72T>A
ENST00000215882.9:c.822-72T>A	ENSP00000215882.5:n.822-72T>A
ENST00000451283.5:c.513-72T>A	ENSP00000401480.1:n.513-72T>A
ENST00000470922.5:n.964-72T>A
NM_001256534.1:c.843-72T>A	NP_001243463.1:n.843-72T>A
NM_001287387.1:c.513-72T>A	NP_001274316.1:n.513-72T>A
NM_005984.4:c.822-72T>A	NP_005975.1:n.822-72T>A
NR_046298.2:n.873-72T>A
NM_005984.5:c.822-72T>A MANE Select	NP_005975.1:n.822-72T>A
NM_001256534.2:c.843-72T>A	NP_001243463.1:n.843-72T>A
NM_001287387.2:c.513-72T>A	NP_001274316.1:n.513-72T>A
NR_046298.3:n.746-72T>A