Canonical Allele Identifier: CA410635562

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1235374704
• gnomAD v4: 22-19176480-G-C
• MyVariant Identifiers: chr22:g.19163993G>C (hg19) ; chr22:g.19176480G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176480G>C , CM000684.2:g.19176480G>C	GRCh38
NC_000022.10:g.19163993G>C , CM000684.1:g.19163993G>C	GRCh37
NC_000022.9:g.17543993G>C	NCBI36
NG_033863.1:g.7384C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.762C>G MANE Select	ENSP00000215882.5:p.His254Gln
ENST00000215882.9:c.762C>G	ENSP00000215882.5:p.His254Gln
ENST00000451283.5:c.453C>G	ENSP00000401480.1:p.His151Gln
ENST00000470922.5:n.904C>G
NM_001256534.1:c.783C>G	NP_001243463.1:p.His261Gln
NM_001287387.1:c.453C>G	NP_001274316.1:p.His151Gln
NM_005984.4:c.762C>G	NP_005975.1:p.His254Gln
NR_046298.2:n.813C>G
NM_005984.5:c.762C>G MANE Select	NP_005975.1:p.His254Gln
NM_001256534.2:c.783C>G	NP_001243463.1:p.His261Gln
NM_001287387.2:c.453C>G	NP_001274316.1:p.His151Gln
NR_046298.3:n.686C>G