Canonical Allele Identifier: CA321343974

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1043972121
• gnomAD v4: 22-19176464-A-G
• MyVariant Identifiers: chr22:g.19163977A>G (hg19) ; chr22:g.19176464A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176464A>G , CM000684.2:g.19176464A>G	GRCh38
NC_000022.10:g.19163977A>G , CM000684.1:g.19163977A>G	GRCh37
NC_000022.9:g.17543977A>G	NCBI36
NG_033863.1:g.7400T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.778T>C MANE Select	ENSP00000215882.5:p.Trp260Arg
ENST00000215882.9:c.778T>C	ENSP00000215882.5:p.Trp260Arg
ENST00000451283.5:c.469T>C	ENSP00000401480.1:p.Trp157Arg
ENST00000470922.5:n.920T>C
NM_001256534.1:c.799T>C	NP_001243463.1:p.Trp267Arg
NM_001287387.1:c.469T>C	NP_001274316.1:p.Trp157Arg
NM_005984.4:c.778T>C	NP_005975.1:p.Trp260Arg
NR_046298.2:n.829T>C
NM_005984.5:c.778T>C MANE Select	NP_005975.1:p.Trp260Arg
NM_001256534.2:c.799T>C	NP_001243463.1:p.Trp267Arg
NM_001287387.2:c.469T>C	NP_001274316.1:p.Trp157Arg
NR_046298.3:n.702T>C