Canonical Allele Identifier: CA2575809713

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162393A>C , CM000677.2:g.80162393A>C	GRCh38
NC_000015.9:g.80454735A>C , CM000677.1:g.80454735A>C	GRCh37
NC_000015.8:g.78241790A>C	NCBI36
NG_012833.1:g.14395A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*29A>C	ENSP00000507680.1:n.*29A>C
ENST00000682012.1:n.530+57A>C
ENST00000683593.1:n.2175A>C
ENST00000684363.1:c.366A>C	ENSP00000507314.1:p.Ala122=
ENST00000684569.1:n.500+57A>C
ENST00000561421.6:c.455+57A>C MANE Select	ENSP00000453347.2:n.455+57A>C
ENST00000646551.1:n.1942+57A>C
ENST00000261755.9:c.455+57A>C	ENSP00000261755.5:n.455+57A>C
ENST00000407106.5:c.455+57A>C	ENSP00000385080.1:n.455+57A>C
ENST00000537726.5:n.658A>C
ENST00000539156.5:c.245+57A>C	ENSP00000454271.1:n.245+57A>C
ENST00000558022.5:c.455+57A>C	ENSP00000453152.1:n.455+57A>C
ENST00000558627.1:n.383+57A>C
ENST00000558767.5:n.773A>C
ENST00000561369.1:n.656A>C
ENST00000561421.5:c.455+57A>C	ENSP00000453347.1:n.455+57A>C
NM_000137.2:c.455+57A>C	NP_000128.1:n.455+57A>C
XM_024449872.1:c.455+57A>C	XP_024305640.1:n.455+57A>C
NM_000137.4:c.455+57A>C MANE Select	NP_000128.1:n.455+57A>C
NM_001374377.1:c.455+57A>C	NP_001361306.1:n.455+57A>C
NM_001374380.1:c.455+57A>C	NP_001361309.1:n.455+57A>C