Canonical Allele Identifier: CA716102466

Gene: FAH

Linked Data

• dbSNP Id: rs1385673050
• MyVariant Identifiers: chr15:g.80445020_80445021insG (hg19) ; chr15:g.80152678_80152679insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152680dup , CM000677.2:g.80152680dup	GRCh38
NC_000015.9:g.80445022dup , CM000677.1:g.80445022dup	GRCh37
NC_000015.8:g.78232077dup	NCBI36
NG_012833.1:g.4682dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+135dup	ENSP00000453152.1:n.-30+135dup