Canonical Allele Identifier: CA2577642947

Gene: SLC25A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176372C>A , CM000684.2:g.19176372C>A	GRCh38
NC_000022.10:g.19163885C>A , CM000684.1:g.19163885C>A	GRCh37
NC_000022.9:g.17543885C>A	NCBI36
NG_033863.1:g.7492G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.821+49G>T MANE Select	ENSP00000215882.5:n.821+49G>T
ENST00000215882.9:c.821+49G>T	ENSP00000215882.5:n.821+49G>T
ENST00000451283.5:c.512+49G>T	ENSP00000401480.1:n.512+49G>T
ENST00000470922.5:n.963+49G>T
NM_001256534.1:c.842+49G>T	NP_001243463.1:n.842+49G>T
NM_001287387.1:c.512+49G>T	NP_001274316.1:n.512+49G>T
NM_005984.4:c.821+49G>T	NP_005975.1:n.821+49G>T
NR_046298.2:n.872+49G>T
NM_005984.5:c.821+49G>T MANE Select	NP_005975.1:n.821+49G>T
NM_001256534.2:c.842+49G>T	NP_001243463.1:n.842+49G>T
NM_001287387.2:c.512+49G>T	NP_001274316.1:n.512+49G>T
NR_046298.3:n.745+49G>T