Canonical Allele Identifier: CA804275278

Gene: SLC25A48

Linked Data

• dbSNP Id: rs1380250847
• MyVariant Identifiers: chr5:g.134876558C>T (hg19) ; chr5:g.135540868C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135540868C>T , CM000667.2:g.135540868C>T	GRCh38
NC_000005.9:g.134876558C>T , CM000667.1:g.134876558C>T	GRCh37
NC_000005.8:g.134904457C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000698885.1:n.364+31112C>T