Canonical Allele Identifier: CA2190336563
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168179G= , CM000677.2:g.80168179G= GRCh38
NC_000015.9:g.80460521G= , CM000677.1:g.80460521G= GRCh37
NC_000015.8:g.78247576G= NCBI36
NG_012833.1:g.20181G=

Transcript Alleles

HGVS Amino-acid change
ENST00000682012.1:n.658G=
ENST00000684569.1:n.598+30G=
ENST00000561421.6:c.553+30G= MANE Select ENSP00000453347.2:n.553+30G=
ENST00000646551.1:n.2180+30G=
ENST00000261755.9:c.553+30G= ENSP00000261755.5:n.553+30G=
ENST00000407106.5:c.553+30G= ENSP00000385080.1:n.553+30G=
ENST00000539156.5:c.343+30G= ENSP00000454271.1:n.343+30G=
ENST00000558514.1:n.99+30G=
ENST00000558627.1:n.481+30G=
ENST00000561421.5:c.553+30G= ENSP00000453347.1:n.553+30G=
NM_000137.2:c.553+30G= NP_000128.1:n.553+30G=
XM_024449872.1:c.553+30G= XP_024305640.1:n.553+30G=
NM_000137.4:c.553+30G= MANE Select NP_000128.1:n.553+30G=
NM_001374377.1:c.553+30G= NP_001361306.1:n.553+30G=
NM_001374380.1:c.553+30G= NP_001361309.1:n.553+30G=