Canonical Allele Identifier: CA2629874560

Gene: FAH

Linked Data

• gnomAD v4: 15-80180054-G-GCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180055_80180057dup , CM000677.2:g.80180055_80180057dup	GRCh38
NC_000015.9:g.80472397_80472399dup , CM000677.1:g.80472397_80472399dup	GRCh37
NC_000015.8:g.78259452_78259454dup	NCBI36
NG_012833.1:g.32057_32059dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1050-69_1050-67dup
ENST00000561421.6:c.961-69_961-67dup MANE Select	ENSP00000453347.2:n.961-69_961-67dup
ENST00000646551.1:n.2575-69_2575-67dup
ENST00000261755.9:c.961-69_961-67dup	ENSP00000261755.5:n.961-69_961-67dup
ENST00000407106.5:c.961-69_961-67dup	ENSP00000385080.1:n.961-69_961-67dup
ENST00000539156.5:c.751-69_751-67dup	ENSP00000454271.1:n.751-69_751-67dup
ENST00000559217.1:n.178-69_178-67dup
ENST00000561353.2:c.59-69_59-67dup
ENST00000561421.5:c.961-69_961-67dup	ENSP00000453347.1:n.961-69_961-67dup
NM_000137.2:c.961-69_961-67dup	NP_000128.1:n.961-69_961-67dup
XM_024449872.1:c.961-69_961-67dup	XP_024305640.1:n.961-69_961-67dup
NM_000137.4:c.961-69_961-67dup MANE Select	NP_000128.1:n.961-69_961-67dup
NM_001374377.1:c.961-69_961-67dup	NP_001361306.1:n.961-69_961-67dup
NM_001374380.1:c.961-69_961-67dup	NP_001361309.1:n.961-69_961-67dup