Canonical Allele Identifier: CA638503319

Gene: SLC25A1

Linked Data

• ClinVar Variation Id: 2897819
• ClinVar RCV Id: RCV003726076
• dbSNP Id: rs376463484
• gnomAD v2: 22-19164079-C-T
• gnomAD v3: 22-19176566-C-T
• gnomAD v4: 22-19176566-C-T
• MyVariant Identifiers: chr22:g.19164079C>T (hg19) ; chr22:g.19176566C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176566C>T , CM000684.2:g.19176566C>T	GRCh38
NC_000022.10:g.19164079C>T , CM000684.1:g.19164079C>T	GRCh37
NC_000022.9:g.17544079C>T	NCBI36
NG_033863.1:g.7298G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000215882.10:c.747+12G>A MANE Select	ENSP00000215882.5:n.747+12G>A
ENST00000215882.9:c.747+12G>A	ENSP00000215882.5:n.747+12G>A
ENST00000451283.5:c.438+12G>A	ENSP00000401480.1:n.438+12G>A
ENST00000470922.5:n.889+12G>A
NM_001256534.1:c.768+12G>A	NP_001243463.1:n.768+12G>A
NM_001287387.1:c.438+12G>A	NP_001274316.1:n.438+12G>A
NM_005984.4:c.747+12G>A	NP_005975.1:n.747+12G>A
NR_046298.2:n.798+12G>A
NM_005984.5:c.747+12G>A MANE Select	NP_005975.1:n.747+12G>A
NM_001256534.2:c.768+12G>A	NP_001243463.1:n.768+12G>A
NM_001287387.2:c.438+12G>A	NP_001274316.1:n.438+12G>A
NR_046298.3:n.671+12G>A