Canonical Allele Identifier: CA393618052

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80158171G>C , CM000677.2:g.80158171G>C	GRCh38
NC_000015.9:g.80450513G>C , CM000677.1:g.80450513G>C	GRCh37
NC_000015.8:g.78237568G>C	NCBI36
NG_012833.1:g.10173G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000137.4:c.192+1G>C MANE Select	NP_000128.1:n.192+1G>C
ENST00000561421.6:c.192+1G>C MANE Select	ENSP00000453347.2:n.192+1G>C
NM_000137.2:c.192+1G>C	NP_000128.1:n.192+1G>C
NM_001374377.1:c.192+1G>C	NP_001361306.1:n.192+1G>C
NM_001374380.1:c.192+1G>C	NP_001361309.1:n.192+1G>C
ENST00000261755.9:c.192+1G>C	ENSP00000261755.5:n.192+1G>C
ENST00000407106.5:c.192+1G>C	ENSP00000385080.1:n.192+1G>C
ENST00000537726.5:n.274+1G>C
ENST00000539156.5:c.-19+1G>C	ENSP00000454271.1:n.-19+1G>C
ENST00000558022.5:c.192+1G>C	ENSP00000453152.1:n.192+1G>C
ENST00000558767.5:n.453+1G>C
ENST00000558767.6:c.192+1G>C	ENSP00000507680.1:n.192+1G>C
ENST00000561369.1:n.272+1G>C
ENST00000561421.5:c.192+1G>C	ENSP00000453347.1:n.192+1G>C
ENST00000646551.1:n.1679+1G>C
ENST00000682012.1:n.267+1G>C
ENST00000683593.1:n.69+1G>C
ENST00000684363.1:c.192+1G>C	ENSP00000507314.1:n.192+1G>C
ENST00000684569.1:n.237+1G>C
XM_024449872.1:c.192+1G>C	XP_024305640.1:n.192+1G>C