Canonical Allele Identifier: CA2575809739

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168193_80168200dup , CM000677.2:g.80168193_80168200dup	GRCh38
NC_000015.9:g.80460535_80460542dup , CM000677.1:g.80460535_80460542dup	GRCh37
NC_000015.8:g.78247590_78247597dup	NCBI36
NG_012833.1:g.20195_20202dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.672_679dup
ENST00000684569.1:n.598+44_598+51dup
ENST00000561421.6:c.553+44_553+51dup MANE Select	ENSP00000453347.2:n.553+44_553+51dup
ENST00000646551.1:n.2180+44_2180+51dup
ENST00000261755.9:c.553+44_553+51dup	ENSP00000261755.5:n.553+44_553+51dup
ENST00000407106.5:c.553+44_553+51dup	ENSP00000385080.1:n.553+44_553+51dup
ENST00000539156.5:c.343+44_343+51dup	ENSP00000454271.1:n.343+44_343+51dup
ENST00000558514.1:n.99+44_99+51dup
ENST00000558627.1:n.481+44_481+51dup
ENST00000561421.5:c.553+44_553+51dup	ENSP00000453347.1:n.553+44_553+51dup
NM_000137.2:c.553+44_553+51dup	NP_000128.1:n.553+44_553+51dup
XM_024449872.1:c.553+44_553+51dup	XP_024305640.1:n.553+44_553+51dup
NM_000137.4:c.553+44_553+51dup MANE Select	NP_000128.1:n.553+44_553+51dup
NM_001374377.1:c.553+44_553+51dup	NP_001361306.1:n.553+44_553+51dup
NM_001374380.1:c.553+44_553+51dup	NP_001361309.1:n.553+44_553+51dup