Canonical Allele Identifier: CA2190336514

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168086_80168087delinsTC , CM000677.2:g.80168086_80168087delinsTC	GRCh38
NC_000015.9:g.80460428_80460429delinsTC , CM000677.1:g.80460428_80460429delinsTC	GRCh37
NC_000015.8:g.78247483_78247484delinsTC	NCBI36
NG_012833.1:g.20088_20089delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.565_566delinsTC
ENST00000684569.1:n.535_536delinsTC
ENST00000561421.6:c.490_491delinsTC MANE Select	ENSP00000453347.2:p.Ser164=
ENST00000646551.1:n.2117_2118delinsTC
ENST00000261755.9:c.490_491delinsTC	ENSP00000261755.5:p.Ser164=
ENST00000407106.5:c.490_491delinsTC	ENSP00000385080.1:p.Ser164=
ENST00000539156.5:c.280_281delinsTC	ENSP00000454271.1:p.Ser94=
ENST00000558514.1:n.36_37delinsTC
ENST00000558627.1:n.418_419delinsTC
ENST00000561421.5:c.490_491delinsTC	ENSP00000453347.1:p.Ser164=
NM_000137.2:c.490_491delinsTC	NP_000128.1:p.Ser164=
XM_024449872.1:c.490_491delinsTC	XP_024305640.1:p.Ser164=
NM_000137.4:c.490_491delinsTC MANE Select	NP_000128.1:p.Ser164=
NM_001374377.1:c.490_491delinsTC	NP_001361306.1:p.Ser164=
NM_001374380.1:c.490_491delinsTC	NP_001361309.1:p.Ser164=