Canonical Allele Identifier: CA513188224

Gene: SLC25A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177989G>A , CM000684.2:g.19177989G>A	GRCh38
NC_000022.10:g.19165502G>A , CM000684.1:g.19165502G>A	GRCh37
NC_000022.9:g.17545502G>A	NCBI36
NG_033805.1:g.118728C>T
NG_033863.1:g.5875C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005984.5:c.255C>T MANE Select	NP_005975.1:p.Arg85=
ENST00000215882.10:c.255C>T MANE Select	ENSP00000215882.5:p.Arg85=
NM_001256534.1:c.276C>T	NP_001243463.1:p.Arg92=
NM_001256534.2:c.276C>T	NP_001243463.1:p.Arg92=
NM_001287387.1:c.-55C>T	NP_001274316.1:n.-55C>T
NM_001287387.2:c.-55C>T	NP_001274316.1:n.-55C>T
NM_005984.4:c.255C>T	NP_005975.1:p.Arg85=
NR_046298.2:n.445C>T
NR_046298.3:n.318C>T
ENST00000215882.9:c.255C>T	ENSP00000215882.5:p.Arg85=
ENST00000451283.5:c.-55C>T	ENSP00000401480.1:n.-55C>T
ENST00000461267.1:n.401C>T
ENST00000470922.5:n.321C>T