Canonical Allele Identifier: CA2731505297

Gene: FAH

Linked Data

• dbSNP Id: rs2142094069

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162357C>T , CM000677.2:g.80162357C>T	GRCh38
NC_000015.9:g.80454699C>T , CM000677.1:g.80454699C>T	GRCh37
NC_000015.8:g.78241754C>T	NCBI36
NG_012833.1:g.14359C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.476C>T	ENSP00000507680.1:p.Ser159Phe
ENST00000682012.1:n.530+21C>T
ENST00000683593.1:n.2139C>T
ENST00000684363.1:c.365-35C>T	ENSP00000507314.1:n.365-35C>T
ENST00000684569.1:n.500+21C>T
ENST00000561421.6:c.455+21C>T MANE Select	ENSP00000453347.2:n.455+21C>T
ENST00000646551.1:n.1942+21C>T
ENST00000261755.9:c.455+21C>T	ENSP00000261755.5:n.455+21C>T
ENST00000407106.5:c.455+21C>T	ENSP00000385080.1:n.455+21C>T
ENST00000537726.5:n.622C>T
ENST00000539156.5:c.245+21C>T	ENSP00000454271.1:n.245+21C>T
ENST00000558022.5:c.455+21C>T	ENSP00000453152.1:n.455+21C>T
ENST00000558627.1:n.383+21C>T
ENST00000558767.5:n.737C>T
ENST00000561369.1:n.620C>T
ENST00000561421.5:c.455+21C>T	ENSP00000453347.1:n.455+21C>T
NM_000137.2:c.455+21C>T	NP_000128.1:n.455+21C>T
XM_024449872.1:c.455+21C>T	XP_024305640.1:n.455+21C>T
NM_000137.4:c.455+21C>T MANE Select	NP_000128.1:n.455+21C>T
NM_001374377.1:c.455+21C>T	NP_001361306.1:n.455+21C>T
NM_001374380.1:c.455+21C>T	NP_001361309.1:n.455+21C>T