Canonical Allele Identifier: CA2575809740

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168234dup , CM000677.2:g.80168234dup	GRCh38
NC_000015.9:g.80460576dup , CM000677.1:g.80460576dup	GRCh37
NC_000015.8:g.78247631dup	NCBI36
NG_012833.1:g.20236dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.713dup
ENST00000684569.1:n.599-30dup
ENST00000561421.6:c.554-30dup MANE Select	ENSP00000453347.2:n.554-30dup
ENST00000646551.1:n.2181-30dup
ENST00000261755.9:c.554-30dup	ENSP00000261755.5:n.554-30dup
ENST00000407106.5:c.554-30dup	ENSP00000385080.1:n.554-30dup
ENST00000539156.5:c.344-30dup	ENSP00000454271.1:n.344-30dup
ENST00000558514.1:n.100-30dup
ENST00000558627.1:n.482-30dup
ENST00000561421.5:c.554-30dup	ENSP00000453347.1:n.554-30dup
NM_000137.2:c.554-30dup	NP_000128.1:n.554-30dup
XM_024449872.1:c.554-30dup	XP_024305640.1:n.554-30dup
NM_000137.4:c.554-30dup MANE Select	NP_000128.1:n.554-30dup
NM_001374377.1:c.554-30dup	NP_001361306.1:n.554-30dup
NM_001374380.1:c.554-30dup	NP_001361309.1:n.554-30dup