Canonical Allele Identifier: CA2190340938

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80177601T= , CM000677.2:g.80177601T=	GRCh38
NC_000015.9:g.80469943T= , CM000677.1:g.80469943T=	GRCh37
NC_000015.8:g.78256998T=	NCBI36
NG_012833.1:g.29603T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1049+18T=
ENST00000561421.6:c.960+18T= MANE Select	ENSP00000453347.2:n.960+18T=
ENST00000646551.1:n.2574+18T=
ENST00000261755.9:c.960+18T=	ENSP00000261755.5:n.960+18T=
ENST00000407106.5:c.960+18T=	ENSP00000385080.1:n.960+18T=
ENST00000539156.5:c.750+18T=	ENSP00000454271.1:n.750+18T=
ENST00000559217.1:n.177+18T=
ENST00000561353.2:c.58+18T=
ENST00000561421.5:c.960+18T=	ENSP00000453347.1:n.960+18T=
NM_000137.2:c.960+18T=	NP_000128.1:n.960+18T=
XM_024449872.1:c.960+18T=	XP_024305640.1:n.960+18T=
NM_000137.4:c.960+18T= MANE Select	NP_000128.1:n.960+18T=
NM_001374377.1:c.960+18T=	NP_001361306.1:n.960+18T=
NM_001374380.1:c.960+18T=	NP_001361309.1:n.960+18T=