Canonical Allele Identifier: CA410634026

Gene: SLC25A1

Linked Data

• ClinVar Variation Id: 1406260
• ClinVar RCV Id: RCV001915742
• dbSNP Id: rs1234366257
• gnomAD v2: 22-19163741-C-T
• gnomAD v4: 22-19176228-C-T
• MyVariant Identifiers: chr22:g.19163741C>T (hg19) ; chr22:g.19176228C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176228C>T , CM000684.2:g.19176228C>T	GRCh38
NC_000022.10:g.19163741C>T , CM000684.1:g.19163741C>T	GRCh37
NC_000022.9:g.17543741C>T	NCBI36
NG_033863.1:g.7636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.838G>A MANE Select	ENSP00000215882.5:p.Val280Ile
ENST00000215882.9:c.838G>A	ENSP00000215882.5:p.Val280Ile
ENST00000451283.5:c.529G>A	ENSP00000401480.1:p.Val177Ile
ENST00000470922.5:n.980G>A
NM_001256534.1:c.859G>A	NP_001243463.1:p.Val287Ile
NM_001287387.1:c.529G>A	NP_001274316.1:p.Val177Ile
NM_005984.4:c.838G>A	NP_005975.1:p.Val280Ile
NR_046298.2:n.889G>A
NM_005984.5:c.838G>A MANE Select	NP_005975.1:p.Val280Ile
NM_001256534.2:c.859G>A	NP_001243463.1:p.Val287Ile
NM_001287387.2:c.529G>A	NP_001274316.1:p.Val177Ile
NR_046298.3:n.762G>A