Canonical Allele Identifier: CA2190336681

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168368A= , CM000677.2:g.80168368A=	GRCh38
NC_000015.9:g.80460710A= , CM000677.1:g.80460710A=	GRCh37
NC_000015.8:g.78247765A=	NCBI36
NG_012833.1:g.20370A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.795+52A=
ENST00000684569.1:n.651+52A=
ENST00000561421.6:c.606+52A= MANE Select	ENSP00000453347.2:n.606+52A=
ENST00000646551.1:n.2233+52A=
ENST00000261755.9:c.606+52A=	ENSP00000261755.5:n.606+52A=
ENST00000407106.5:c.606+52A=	ENSP00000385080.1:n.606+52A=
ENST00000539156.5:c.396+52A=	ENSP00000454271.1:n.396+52A=
ENST00000558514.1:n.204A=
ENST00000558627.1:n.534+52A=
ENST00000561421.5:c.606+52A=	ENSP00000453347.1:n.606+52A=
NM_000137.2:c.606+52A=	NP_000128.1:n.606+52A=
XM_024449872.1:c.606+52A=	XP_024305640.1:n.606+52A=
NM_000137.4:c.606+52A= MANE Select	NP_000128.1:n.606+52A=
NM_001374377.1:c.606+52A=	NP_001361306.1:n.606+52A=
NM_001374380.1:c.606+52A=	NP_001361309.1:n.606+52A=