Canonical Allele Identifier: CA2190336569
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168186A= , CM000677.2:g.80168186A= GRCh38
NC_000015.9:g.80460528A= , CM000677.1:g.80460528A= GRCh37
NC_000015.8:g.78247583A= NCBI36
NG_012833.1:g.20188A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.665A=
ENST00000684569.1:n.598+37A=
ENST00000561421.6:c.553+37A= MANE Select ENSP00000453347.2:n.553+37A=
ENST00000646551.1:n.2180+37A=
ENST00000261755.9:c.553+37A= ENSP00000261755.5:n.553+37A=
ENST00000407106.5:c.553+37A= ENSP00000385080.1:n.553+37A=
ENST00000539156.5:c.343+37A= ENSP00000454271.1:n.343+37A=
ENST00000558514.1:n.99+37A=
ENST00000558627.1:n.481+37A=
ENST00000561421.5:c.553+37A= ENSP00000453347.1:n.553+37A=
NM_000137.2:c.553+37A= NP_000128.1:n.553+37A=
XM_024449872.1:c.553+37A= XP_024305640.1:n.553+37A=
NM_000137.4:c.553+37A= MANE Select NP_000128.1:n.553+37A=
NM_001374377.1:c.553+37A= NP_001361306.1:n.553+37A=
NM_001374380.1:c.553+37A= NP_001361309.1:n.553+37A=