Canonical Allele Identifier: CA2190336532

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168126T= , CM000677.2:g.80168126T=	GRCh38
NC_000015.9:g.80460468T= , CM000677.1:g.80460468T=	GRCh37
NC_000015.8:g.78247523T=	NCBI36
NG_012833.1:g.20128T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.605T=
ENST00000684569.1:n.575T=
ENST00000561421.6:c.530T= MANE Select	ENSP00000453347.2:p.Met177=
ENST00000646551.1:n.2157T=
ENST00000261755.9:c.530T=	ENSP00000261755.5:p.Met177=
ENST00000407106.5:c.530T=	ENSP00000385080.1:p.Met177=
ENST00000539156.5:c.320T=	ENSP00000454271.1:p.Met107=
ENST00000558514.1:n.76T=
ENST00000558627.1:n.458T=
ENST00000561421.5:c.530T=	ENSP00000453347.1:p.Met177=
NM_000137.2:c.530T=	NP_000128.1:p.Met177=
XM_024449872.1:c.530T=	XP_024305640.1:p.Met177=
NM_000137.4:c.530T= MANE Select	NP_000128.1:p.Met177=
NM_001374377.1:c.530T=	NP_001361306.1:p.Met177=
NM_001374380.1:c.530T=	NP_001361309.1:p.Met177=