Canonical Allele Identifier: CA2190336521
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168105G= , CM000677.2:g.80168105G= GRCh38
NC_000015.9:g.80460447G= , CM000677.1:g.80460447G= GRCh37
NC_000015.8:g.78247502G= NCBI36
NG_012833.1:g.20107G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.584G=
ENST00000684569.1:n.554G=
ENST00000561421.6:c.509G= MANE Select ENSP00000453347.2:p.Gly170=
ENST00000646551.1:n.2136G=
ENST00000261755.9:c.509G= ENSP00000261755.5:p.Gly170=
ENST00000407106.5:c.509G= ENSP00000385080.1:p.Gly170=
ENST00000539156.5:c.299G= ENSP00000454271.1:p.Gly100=
ENST00000558514.1:n.55G=
ENST00000558627.1:n.437G=
ENST00000561421.5:c.509G= ENSP00000453347.1:p.Gly170=
NM_000137.2:c.509G= NP_000128.1:p.Gly170=
XM_024449872.1:c.509G= XP_024305640.1:p.Gly170=
NM_000137.4:c.509G= MANE Select NP_000128.1:p.Gly170=
NM_001374377.1:c.509G= NP_001361306.1:p.Gly170=
NM_001374380.1:c.509G= NP_001361309.1:p.Gly170=