Canonical Allele Identifier: CA2190336505
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168062C= , CM000677.2:g.80168062C= GRCh38
NC_000015.9:g.80460404C= , CM000677.1:g.80460404C= GRCh37
NC_000015.8:g.78247459C= NCBI36
NG_012833.1:g.20064C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.541C=
ENST00000684569.1:n.511C=
ENST00000561421.6:c.466C= MANE Select ENSP00000453347.2:p.Pro156=
ENST00000646551.1:n.2093C=
ENST00000261755.9:c.466C= ENSP00000261755.5:p.Pro156=
ENST00000407106.5:c.466C= ENSP00000385080.1:p.Pro156=
ENST00000539156.5:c.256C= ENSP00000454271.1:p.Pro86=
ENST00000558022.5:c.466C= ENSP00000453152.1:p.Pro156=
ENST00000558514.1:n.12C=
ENST00000558627.1:n.394C=
ENST00000561421.5:c.466C= ENSP00000453347.1:p.Pro156=
NM_000137.2:c.466C= NP_000128.1:p.Pro156=
XM_024449872.1:c.466C= XP_024305640.1:p.Pro156=
NM_000137.4:c.466C= MANE Select NP_000128.1:p.Pro156=
NM_001374377.1:c.466C= NP_001361306.1:p.Pro156=
NM_001374380.1:c.466C= NP_001361309.1:p.Pro156=