Canonical Allele Identifier: CA410633900

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19163719C>T (hg19) ; chr22:g.19176206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176206C>T , CM000684.2:g.19176206C>T	GRCh38
NC_000022.10:g.19163719C>T , CM000684.1:g.19163719C>T	GRCh37
NC_000022.9:g.17543719C>T	NCBI36
NG_033863.1:g.7658G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.860G>A MANE Select	ENSP00000215882.5:p.Cys287Tyr
ENST00000215882.9:c.860G>A	ENSP00000215882.5:p.Cys287Tyr
ENST00000451283.5:c.551G>A	ENSP00000401480.1:p.Cys184Tyr
ENST00000470922.5:n.1002G>A
NM_001256534.1:c.881G>A	NP_001243463.1:p.Cys294Tyr
NM_001287387.1:c.551G>A	NP_001274316.1:p.Cys184Tyr
NM_005984.4:c.860G>A	NP_005975.1:p.Cys287Tyr
NR_046298.2:n.911G>A
NM_005984.5:c.860G>A MANE Select	NP_005975.1:p.Cys287Tyr
NM_001256534.2:c.881G>A	NP_001243463.1:p.Cys294Tyr
NM_001287387.2:c.551G>A	NP_001274316.1:p.Cys184Tyr
NR_046298.3:n.784G>A