Canonical Allele Identifier: CA410633619

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19163683T>G (hg19) ; chr22:g.19176170T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176170T>G , CM000684.2:g.19176170T>G	GRCh38
NC_000022.10:g.19163683T>G , CM000684.1:g.19163683T>G	GRCh37
NC_000022.9:g.17543683T>G	NCBI36
NG_033863.1:g.7694A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.896A>C MANE Select	ENSP00000215882.5:p.Glu299Ala
ENST00000215882.9:c.896A>C	ENSP00000215882.5:p.Glu299Ala
ENST00000451283.5:c.587A>C	ENSP00000401480.1:p.Glu196Ala
ENST00000470922.5:n.1038A>C
NM_001256534.1:c.917A>C	NP_001243463.1:p.Glu306Ala
NM_001287387.1:c.587A>C	NP_001274316.1:p.Glu196Ala
NM_005984.4:c.896A>C	NP_005975.1:p.Glu299Ala
NR_046298.2:n.947A>C
NM_005984.5:c.896A>C MANE Select	NP_005975.1:p.Glu299Ala
NM_001256534.2:c.917A>C	NP_001243463.1:p.Glu306Ala
NM_001287387.2:c.587A>C	NP_001274316.1:p.Glu196Ala
NR_046298.3:n.820A>C