Canonical Allele Identifier: CA2190336468
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168000G= , CM000677.2:g.80168000G= GRCh38
NC_000015.9:g.80460342G= , CM000677.1:g.80460342G= GRCh37
NC_000015.8:g.78247397G= NCBI36
NG_012833.1:g.20002G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.531-52G=
ENST00000684569.1:n.501-52G=
ENST00000561421.6:c.456-52G= MANE Select ENSP00000453347.2:n.456-52G=
ENST00000646551.1:n.2083-52G=
ENST00000261755.9:c.456-52G= ENSP00000261755.5:n.456-52G=
ENST00000407106.5:c.456-52G= ENSP00000385080.1:n.456-52G=
ENST00000539156.5:c.246-52G= ENSP00000454271.1:n.246-52G=
ENST00000558022.5:c.456-52G= ENSP00000453152.1:n.456-52G=
ENST00000558627.1:n.384-52G=
ENST00000561421.5:c.456-52G= ENSP00000453347.1:n.456-52G=
NM_000137.2:c.456-52G= NP_000128.1:n.456-52G=
XM_024449872.1:c.456-52G= XP_024305640.1:n.456-52G=
NM_000137.4:c.456-52G= MANE Select NP_000128.1:n.456-52G=
NM_001374377.1:c.456-52G= NP_001361306.1:n.456-52G=
NM_001374380.1:c.456-52G= NP_001361309.1:n.456-52G=