Canonical Allele Identifier: CA12087725

Gene: SLC25A48

Linked Data

• dbSNP Id: rs73298489
• gnomAD v2: 5-134876578-C-G
• gnomAD v3: 5-135540888-C-G
• gnomAD v4: 5-135540888-C-G
• MyVariant Identifiers: chr5:g.134876578C>G (hg19) ; chr5:g.135540888C>G (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135540888C>G , CM000667.2:g.135540888C>G	GRCh38
NC_000005.9:g.134876578C>G , CM000667.1:g.134876578C>G	GRCh37
NC_000005.8:g.134904477C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000698885.1:n.364+31132C>G