Canonical Allele Identifier: CA2629872500

Gene: FAH

Linked Data

• gnomAD v4: 15-80152584-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152584_80152585insT , CM000677.2:g.80152584_80152585insT	GRCh38
NC_000015.9:g.80444926_80444927insT , CM000677.1:g.80444926_80444927insT	GRCh37
NC_000015.8:g.78231981_78231982insT	NCBI36
NG_012833.1:g.4586_4587insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+39_-30+40insT	ENSP00000453152.1:n.-30+39_-30+40insT