Canonical Allele Identifier: CA2629878628

Gene: FAH

Linked Data

• gnomAD v4: 15-80162590-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162590A>T , CM000677.2:g.80162590A>T	GRCh38
NC_000015.9:g.80454932A>T , CM000677.1:g.80454932A>T	GRCh37
NC_000015.8:g.78241987A>T	NCBI36
NG_012833.1:g.14592A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*226A>T	ENSP00000507680.1:n.*226A>T
ENST00000682012.1:n.530+254A>T
ENST00000683593.1:n.2372A>T
ENST00000684363.1:c.563A>T	ENSP00000507314.1:n.563A>T
ENST00000684569.1:n.500+254A>T
ENST00000561421.6:c.455+254A>T MANE Select	ENSP00000453347.2:n.455+254A>T
ENST00000646551.1:n.1942+254A>T
ENST00000261755.9:c.455+254A>T	ENSP00000261755.5:n.455+254A>T
ENST00000407106.5:c.455+254A>T	ENSP00000385080.1:n.455+254A>T
ENST00000537726.5:n.855A>T
ENST00000539156.5:c.245+254A>T	ENSP00000454271.1:n.245+254A>T
ENST00000558022.5:c.455+254A>T	ENSP00000453152.1:n.455+254A>T
ENST00000558627.1:n.383+254A>T
ENST00000558767.5:n.970A>T
ENST00000561421.5:c.455+254A>T	ENSP00000453347.1:n.455+254A>T
NM_000137.2:c.455+254A>T	NP_000128.1:n.455+254A>T
XM_024449872.1:c.455+254A>T	XP_024305640.1:n.455+254A>T
NM_000137.4:c.455+254A>T MANE Select	NP_000128.1:n.455+254A>T
NM_001374377.1:c.455+254A>T	NP_001361306.1:n.455+254A>T
NM_001374380.1:c.455+254A>T	NP_001361309.1:n.455+254A>T