Canonical Allele Identifier: CA2190333905

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162297T= , CM000677.2:g.80162297T=	GRCh38
NC_000015.9:g.80454639T= , CM000677.1:g.80454639T=	GRCh37
NC_000015.8:g.78241694T=	NCBI36
NG_012833.1:g.14299T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.416T=	ENSP00000507680.1:p.Ile139=
ENST00000682012.1:n.491T=
ENST00000683593.1:n.2079T=
ENST00000684363.1:c.365-95T=	ENSP00000507314.1:n.365-95T=
ENST00000684569.1:n.461T=
ENST00000561421.6:c.416T= MANE Select	ENSP00000453347.2:p.Ile139=
ENST00000646551.1:n.1903T=
ENST00000261755.9:c.416T=	ENSP00000261755.5:p.Ile139=
ENST00000407106.5:c.416T=	ENSP00000385080.1:p.Ile139=
ENST00000537726.5:n.562T=
ENST00000539156.5:c.206T=	ENSP00000454271.1:p.Ile69=
ENST00000558022.5:c.416T=	ENSP00000453152.1:p.Ile139=
ENST00000558627.1:n.344T=
ENST00000558767.5:n.677T=
ENST00000561369.1:n.560T=
ENST00000561421.5:c.416T=	ENSP00000453347.1:p.Ile139=
NM_000137.2:c.416T=	NP_000128.1:p.Ile139=
XM_024449872.1:c.416T=	XP_024305640.1:p.Ile139=
NM_000137.4:c.416T= MANE Select	NP_000128.1:p.Ile139=
NM_001374377.1:c.416T=	NP_001361306.1:p.Ile139=
NM_001374380.1:c.416T=	NP_001361309.1:p.Ile139=