Canonical Allele Identifier: CA10097245

Gene: SLC25A1

Linked Data

• dbSNP Id: rs145213296
• ExAC: 22:19163725 C / T
• gnomAD v2: 22-19163725-C-T
• gnomAD v4: 22-19176212-C-T
• MyVariant Identifiers: chr22:g.19163725C>T (hg19) ; chr22:g.19176212C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176212C>T , CM000684.2:g.19176212C>T	GRCh38
NC_000022.10:g.19163725C>T , CM000684.1:g.19163725C>T	GRCh37
NC_000022.9:g.17543725C>T	NCBI36
NG_033863.1:g.7652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.854G>A MANE Select	ENSP00000215882.5:p.Arg285Gln
ENST00000215882.9:c.854G>A	ENSP00000215882.5:p.Arg285Gln
ENST00000451283.5:c.545G>A	ENSP00000401480.1:p.Arg182Gln
ENST00000470922.5:n.996G>A
NM_001256534.1:c.875G>A	NP_001243463.1:p.Arg292Gln
NM_001287387.1:c.545G>A	NP_001274316.1:p.Arg182Gln
NM_005984.4:c.854G>A	NP_005975.1:p.Arg285Gln
NR_046298.2:n.905G>A
NM_005984.5:c.854G>A MANE Select	NP_005975.1:p.Arg285Gln
NM_001256534.2:c.875G>A	NP_001243463.1:p.Arg292Gln
NM_001287387.2:c.545G>A	NP_001274316.1:p.Arg182Gln
NR_046298.3:n.778G>A