Canonical Allele Identifier: CA804275346

Gene: SLC25A48

Linked Data

• dbSNP Id: rs1349906536
• gnomAD v3: 5-135540954-A-G
• gnomAD v4: 5-135540954-A-G
• MyVariant Identifiers: chr5:g.134876644A>G (hg19) ; chr5:g.135540954A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135540954A>G , CM000667.2:g.135540954A>G	GRCh38
NC_000005.9:g.134876644A>G , CM000667.1:g.134876644A>G	GRCh37
NC_000005.8:g.134904543A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000698885.1:n.364+31198A>G