Canonical Allele Identifier: CA410637383

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164445T>A (hg19) ; chr22:g.19176932T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176932T>A , CM000684.2:g.19176932T>A	GRCh38
NC_000022.10:g.19164445T>A , CM000684.1:g.19164445T>A	GRCh37
NC_000022.9:g.17544445T>A	NCBI36
NG_033863.1:g.6932A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.545A>T MANE Select	ENSP00000215882.5:p.Gln182Leu
ENST00000215882.9:c.545A>T	ENSP00000215882.5:p.Gln182Leu
ENST00000451283.5:c.236A>T	ENSP00000401480.1:p.Gln79Leu
ENST00000461267.1:n.691A>T
ENST00000470922.5:n.687A>T
NM_001256534.1:c.566A>T	NP_001243463.1:p.Gln189Leu
NM_001287387.1:c.236A>T	NP_001274316.1:p.Gln79Leu
NM_005984.4:c.545A>T	NP_005975.1:p.Gln182Leu
NR_046298.2:n.596A>T
NM_005984.5:c.545A>T MANE Select	NP_005975.1:p.Gln182Leu
NM_001256534.2:c.566A>T	NP_001243463.1:p.Gln189Leu
NM_001287387.2:c.236A>T	NP_001274316.1:p.Gln79Leu
NR_046298.3:n.469A>T