Canonical Allele Identifier: CA2842427130

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168069dup , CM000677.2:g.80168069dup	GRCh38
NC_000015.9:g.80460411dup , CM000677.1:g.80460411dup	GRCh37
NC_000015.8:g.78247466dup	NCBI36
NG_012833.1:g.20071dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.548dup
ENST00000684569.1:n.518dup
ENST00000561421.6:c.473dup MANE Select	ENSP00000453347.2:p.Tyr159LeufsTer25
ENST00000646551.1:n.2100dup
ENST00000261755.9:c.473dup	ENSP00000261755.5:p.Tyr159LeufsTer25
ENST00000407106.5:c.473dup	ENSP00000385080.1:p.Tyr159LeufsTer25
ENST00000539156.5:c.263dup	ENSP00000454271.1:p.Tyr89LeufsTer25
ENST00000558022.5:c.473dup	ENSP00000453152.1:p.Tyr159LeufsTer?
ENST00000558514.1:n.19dup
ENST00000558627.1:n.401dup
ENST00000561421.5:c.473dup	ENSP00000453347.1:p.Tyr159LeufsTer25
NM_000137.2:c.473dup	NP_000128.1:p.Tyr159LeufsTer25
XM_024449872.1:c.473dup	XP_024305640.1:p.Tyr159LeufsTer25
NM_000137.4:c.473dup MANE Select	NP_000128.1:p.Tyr159LeufsTer25
NM_001374377.1:c.473dup	NP_001361306.1:p.Tyr159LeufsTer25
NM_001374380.1:c.473dup	NP_001361309.1:p.Tyr159LeufsTer25