Canonical Allele Identifier: CA2190340943
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80177616G= , CM000677.2:g.80177616G= GRCh38
NC_000015.9:g.80469958G= , CM000677.1:g.80469958G= GRCh37
NC_000015.8:g.78257013G= NCBI36
NG_012833.1:g.29618G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.1049+33G=
ENST00000561421.6:c.960+33G= MANE Select ENSP00000453347.2:n.960+33G=
ENST00000646551.1:n.2574+33G=
ENST00000261755.9:c.960+33G= ENSP00000261755.5:n.960+33G=
ENST00000407106.5:c.960+33G= ENSP00000385080.1:n.960+33G=
ENST00000539156.5:c.750+33G= ENSP00000454271.1:n.750+33G=
ENST00000559217.1:n.177+33G=
ENST00000561353.2:c.58+33G=
ENST00000561421.5:c.960+33G= ENSP00000453347.1:n.960+33G=
NM_000137.2:c.960+33G= NP_000128.1:n.960+33G=
XM_024449872.1:c.960+33G= XP_024305640.1:n.960+33G=
NM_000137.4:c.960+33G= MANE Select NP_000128.1:n.960+33G=
NM_001374377.1:c.960+33G= NP_001361306.1:n.960+33G=
NM_001374380.1:c.960+33G= NP_001361309.1:n.960+33G=