Canonical Allele Identifier: CA410633803

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19163704A>T (hg19) ; chr22:g.19176191A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176191A>T , CM000684.2:g.19176191A>T	GRCh38
NC_000022.10:g.19163704A>T , CM000684.1:g.19163704A>T	GRCh37
NC_000022.9:g.17543704A>T	NCBI36
NG_033863.1:g.7673T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.875T>A MANE Select	ENSP00000215882.5:p.Ile292Lys
ENST00000215882.9:c.875T>A	ENSP00000215882.5:p.Ile292Lys
ENST00000451283.5:c.566T>A	ENSP00000401480.1:p.Ile189Lys
ENST00000470922.5:n.1017T>A
NM_001256534.1:c.896T>A	NP_001243463.1:p.Ile299Lys
NM_001287387.1:c.566T>A	NP_001274316.1:p.Ile189Lys
NM_005984.4:c.875T>A	NP_005975.1:p.Ile292Lys
NR_046298.2:n.926T>A
NM_005984.5:c.875T>A MANE Select	NP_005975.1:p.Ile292Lys
NM_001256534.2:c.896T>A	NP_001243463.1:p.Ile299Lys
NM_001287387.2:c.566T>A	NP_001274316.1:p.Ile189Lys
NR_046298.3:n.799T>A