Canonical Allele Identifier: CA410633910

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176207-A-G
• MyVariant Identifiers: chr22:g.19163720A>G (hg19) ; chr22:g.19176207A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176207A>G , CM000684.2:g.19176207A>G	GRCh38
NC_000022.10:g.19163720A>G , CM000684.1:g.19163720A>G	GRCh37
NC_000022.9:g.17543720A>G	NCBI36
NG_033863.1:g.7657T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.859T>C MANE Select	ENSP00000215882.5:p.Cys287Arg
ENST00000215882.9:c.859T>C	ENSP00000215882.5:p.Cys287Arg
ENST00000451283.5:c.550T>C	ENSP00000401480.1:p.Cys184Arg
ENST00000470922.5:n.1001T>C
NM_001256534.1:c.880T>C	NP_001243463.1:p.Cys294Arg
NM_001287387.1:c.550T>C	NP_001274316.1:p.Cys184Arg
NM_005984.4:c.859T>C	NP_005975.1:p.Cys287Arg
NR_046298.2:n.910T>C
NM_005984.5:c.859T>C MANE Select	NP_005975.1:p.Cys287Arg
NM_001256534.2:c.880T>C	NP_001243463.1:p.Cys294Arg
NM_001287387.2:c.550T>C	NP_001274316.1:p.Cys184Arg
NR_046298.3:n.783T>C