Canonical Allele Identifier: CA971894806

Gene: FAH

Linked Data

• dbSNP Id: rs2041067755
• gnomAD v3: 15-80153181-T-TGGA
• gnomAD v4: 15-80153181-T-TGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153183_80153185dup , CM000677.2:g.80153183_80153185dup	GRCh38
NC_000015.9:g.80445525_80445527dup , CM000677.1:g.80445525_80445527dup	GRCh37
NC_000015.8:g.78232580_78232582dup	NCBI36
NG_012833.1:g.5185_5187dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+48_81+50dup	ENSP00000507680.1:n.81+48_81+50dup
ENST00000682012.1:n.156+48_156+50dup
ENST00000684363.1:c.81+48_81+50dup	ENSP00000507314.1:n.81+48_81+50dup
ENST00000684569.1:n.126+48_126+50dup
ENST00000561421.6:c.81+48_81+50dup MANE Select	ENSP00000453347.2:n.81+48_81+50dup
ENST00000261755.9:c.81+48_81+50dup	ENSP00000261755.5:n.81+48_81+50dup
ENST00000407106.5:c.81+48_81+50dup	ENSP00000385080.1:n.81+48_81+50dup
ENST00000537726.5:n.163+48_163+50dup
ENST00000558022.5:c.81+48_81+50dup	ENSP00000453152.1:n.81+48_81+50dup
ENST00000558767.5:n.342+48_342+50dup
ENST00000561369.1:n.161+48_161+50dup
ENST00000561421.5:c.81+48_81+50dup	ENSP00000453347.1:n.81+48_81+50dup
NM_000137.2:c.81+48_81+50dup	NP_000128.1:n.81+48_81+50dup
XM_024449872.1:c.81+48_81+50dup	XP_024305640.1:n.81+48_81+50dup
NM_000137.4:c.81+48_81+50dup MANE Select	NP_000128.1:n.81+48_81+50dup
NM_001374377.1:c.81+48_81+50dup	NP_001361306.1:n.81+48_81+50dup
NM_001374380.1:c.81+48_81+50dup	NP_001361309.1:n.81+48_81+50dup