Canonical Allele Identifier: CA971894932

Gene: FAH

Linked Data

• dbSNP Id: rs2041068578
• gnomAD v3: 15-80153215-A-AG
• gnomAD v4: 15-80153215-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153215_80153216insG , CM000677.2:g.80153215_80153216insG	GRCh38
NC_000015.9:g.80445557_80445558insG , CM000677.1:g.80445557_80445558insG	GRCh37
NC_000015.8:g.78232612_78232613insG	NCBI36
NG_012833.1:g.5217_5218insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+80_81+81insG	ENSP00000507680.1:n.81+80_81+81insG
ENST00000682012.1:n.156+80_156+81insG
ENST00000684363.1:c.81+80_81+81insG	ENSP00000507314.1:n.81+80_81+81insG
ENST00000684569.1:n.126+80_126+81insG
ENST00000561421.6:c.81+80_81+81insG MANE Select	ENSP00000453347.2:n.81+80_81+81insG
ENST00000261755.9:c.81+80_81+81insG	ENSP00000261755.5:n.81+80_81+81insG
ENST00000407106.5:c.81+80_81+81insG	ENSP00000385080.1:n.81+80_81+81insG
ENST00000537726.5:n.163+80_163+81insG
ENST00000558022.5:c.81+80_81+81insG	ENSP00000453152.1:n.81+80_81+81insG
ENST00000558767.5:n.342+80_342+81insG
ENST00000561369.1:n.161+80_161+81insG
ENST00000561421.5:c.81+80_81+81insG	ENSP00000453347.1:n.81+80_81+81insG
NM_000137.2:c.81+80_81+81insG	NP_000128.1:n.81+80_81+81insG
XM_024449872.1:c.81+80_81+81insG	XP_024305640.1:n.81+80_81+81insG
NM_000137.4:c.81+80_81+81insG MANE Select	NP_000128.1:n.81+80_81+81insG
NM_001374377.1:c.81+80_81+81insG	NP_001361306.1:n.81+80_81+81insG
NM_001374380.1:c.81+80_81+81insG	NP_001361309.1:n.81+80_81+81insG