Canonical Allele Identifier: CA2190336589
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168224T= , CM000677.2:g.80168224T= GRCh38
NC_000015.9:g.80460566T= , CM000677.1:g.80460566T= GRCh37
NC_000015.8:g.78247621T= NCBI36
NG_012833.1:g.20226T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.703T=
ENST00000684569.1:n.599-40T=
ENST00000561421.6:c.554-40T= MANE Select ENSP00000453347.2:n.554-40T=
ENST00000646551.1:n.2181-40T=
ENST00000261755.9:c.554-40T= ENSP00000261755.5:n.554-40T=
ENST00000407106.5:c.554-40T= ENSP00000385080.1:n.554-40T=
ENST00000539156.5:c.344-40T= ENSP00000454271.1:n.344-40T=
ENST00000558514.1:n.100-40T=
ENST00000558627.1:n.482-40T=
ENST00000561421.5:c.554-40T= ENSP00000453347.1:n.554-40T=
NM_000137.2:c.554-40T= NP_000128.1:n.554-40T=
XM_024449872.1:c.554-40T= XP_024305640.1:n.554-40T=
NM_000137.4:c.554-40T= MANE Select NP_000128.1:n.554-40T=
NM_001374377.1:c.554-40T= NP_001361306.1:n.554-40T=
NM_001374380.1:c.554-40T= NP_001361309.1:n.554-40T=