Canonical Allele Identifier: CA2190333768
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80161952T= , CM000677.2:g.80161952T= GRCh38
NC_000015.9:g.80454294T= , CM000677.1:g.80454294T= GRCh37
NC_000015.8:g.78241349T= NCBI36
NG_012833.1:g.13954T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.365-294T= ENSP00000507680.1:n.365-294T=
ENST00000682012.1:n.440-294T=
ENST00000683593.1:n.1734T=
ENST00000684363.1:c.365-440T= ENSP00000507314.1:n.365-440T=
ENST00000684569.1:n.410-294T=
ENST00000561421.6:c.365-294T= MANE Select ENSP00000453347.2:n.365-294T=
ENST00000646551.1:n.1852-294T=
ENST00000261755.9:c.365-294T= ENSP00000261755.5:n.365-294T=
ENST00000407106.5:c.365-294T= ENSP00000385080.1:n.365-294T=
ENST00000537726.5:n.511-294T=
ENST00000539156.5:c.155-294T= ENSP00000454271.1:n.155-294T=
ENST00000558022.5:c.365-294T= ENSP00000453152.1:n.365-294T=
ENST00000558627.1:n.293-294T=
ENST00000558767.5:n.626-294T=
ENST00000561369.1:n.509-294T=
ENST00000561421.5:c.365-294T= ENSP00000453347.1:n.365-294T=
NM_000137.2:c.365-294T= NP_000128.1:n.365-294T=
XM_024449872.1:c.365-294T= XP_024305640.1:n.365-294T=
NM_000137.4:c.365-294T= MANE Select NP_000128.1:n.365-294T=
NM_001374377.1:c.365-294T= NP_001361306.1:n.365-294T=
NM_001374380.1:c.365-294T= NP_001361309.1:n.365-294T=