Canonical Allele Identifier: CA130984

Gene: SLC25A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176421G>A , CM000684.2:g.19176421G>A	GRCh38
NC_000022.10:g.19163934G>A , CM000684.1:g.19163934G>A	GRCh37
NC_000022.9:g.17543934G>A	NCBI36
NG_033863.1:g.7443C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005984.5:c.821C>T MANE Select	NP_005975.1:p.Ala274Val
ENST00000215882.10:c.821C>T MANE Select	ENSP00000215882.5:p.Ala274Val
NM_001256534.1:c.842C>T	NP_001243463.1:p.Ala281Val
NM_001256534.2:c.842C>T	NP_001243463.1:p.Ala281Val
NM_001287387.1:c.512C>T	NP_001274316.1:p.Ala171Val
NM_001287387.2:c.512C>T	NP_001274316.1:p.Ala171Val
NM_005984.4:c.821C>T	NP_005975.1:p.Ala274Val
NR_046298.2:n.872C>T
NR_046298.3:n.745C>T
ENST00000215882.9:c.821C>T	ENSP00000215882.5:p.Ala274Val
ENST00000451283.5:c.512C>T	ENSP00000401480.1:p.Ala171Val
ENST00000470922.5:n.963C>T