Canonical Allele Identifier: CA410633845

Gene: SLC25A1

Linked Data

• dbSNP Id: rs2083957092
• gnomAD v4: 22-19176198-C-T
• MyVariant Identifiers: chr22:g.19163711C>T (hg19) ; chr22:g.19176198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176198C>T , CM000684.2:g.19176198C>T	GRCh38
NC_000022.10:g.19163711C>T , CM000684.1:g.19163711C>T	GRCh37
NC_000022.9:g.17543711C>T	NCBI36
NG_033863.1:g.7666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.868G>A MANE Select	ENSP00000215882.5:p.Val290Met
ENST00000215882.9:c.868G>A	ENSP00000215882.5:p.Val290Met
ENST00000451283.5:c.559G>A	ENSP00000401480.1:p.Val187Met
ENST00000470922.5:n.1010G>A
NM_001256534.1:c.889G>A	NP_001243463.1:p.Val297Met
NM_001287387.1:c.559G>A	NP_001274316.1:p.Val187Met
NM_005984.4:c.868G>A	NP_005975.1:p.Val290Met
NR_046298.2:n.919G>A
NM_005984.5:c.868G>A MANE Select	NP_005975.1:p.Val290Met
NM_001256534.2:c.889G>A	NP_001243463.1:p.Val297Met
NM_001287387.2:c.559G>A	NP_001274316.1:p.Val187Met
NR_046298.3:n.792G>A