Canonical Allele Identifier: CA2629878432

Gene: FAH

Linked Data

• gnomAD v4: 15-80162414-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162414G>T , CM000677.2:g.80162414G>T	GRCh38
NC_000015.9:g.80454756G>T , CM000677.1:g.80454756G>T	GRCh37
NC_000015.8:g.78241811G>T	NCBI36
NG_012833.1:g.14416G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*50G>T	ENSP00000507680.1:n.*50G>T
ENST00000682012.1:n.530+78G>T
ENST00000683593.1:n.2196G>T
ENST00000684363.1:c.387G>T	ENSP00000507314.1:p.Leu129=
ENST00000684569.1:n.500+78G>T
ENST00000561421.6:c.455+78G>T MANE Select	ENSP00000453347.2:n.455+78G>T
ENST00000646551.1:n.1942+78G>T
ENST00000261755.9:c.455+78G>T	ENSP00000261755.5:n.455+78G>T
ENST00000407106.5:c.455+78G>T	ENSP00000385080.1:n.455+78G>T
ENST00000537726.5:n.679G>T
ENST00000539156.5:c.245+78G>T	ENSP00000454271.1:n.245+78G>T
ENST00000558022.5:c.455+78G>T	ENSP00000453152.1:n.455+78G>T
ENST00000558627.1:n.383+78G>T
ENST00000558767.5:n.794G>T
ENST00000561369.1:n.677G>T
ENST00000561421.5:c.455+78G>T	ENSP00000453347.1:n.455+78G>T
NM_000137.2:c.455+78G>T	NP_000128.1:n.455+78G>T
XM_024449872.1:c.455+78G>T	XP_024305640.1:n.455+78G>T
NM_000137.4:c.455+78G>T MANE Select	NP_000128.1:n.455+78G>T
NM_001374377.1:c.455+78G>T	NP_001361306.1:n.455+78G>T
NM_001374380.1:c.455+78G>T	NP_001361309.1:n.455+78G>T