Canonical Allele Identifier: CA2190336666
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168342C= , CM000677.2:g.80168342C= GRCh38
NC_000015.9:g.80460684C= , CM000677.1:g.80460684C= GRCh37
NC_000015.8:g.78247739C= NCBI36
NG_012833.1:g.20344C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.795+26C=
ENST00000684569.1:n.651+26C=
ENST00000561421.6:c.606+26C= MANE Select ENSP00000453347.2:n.606+26C=
ENST00000646551.1:n.2233+26C=
ENST00000261755.9:c.606+26C= ENSP00000261755.5:n.606+26C=
ENST00000407106.5:c.606+26C= ENSP00000385080.1:n.606+26C=
ENST00000539156.5:c.396+26C= ENSP00000454271.1:n.396+26C=
ENST00000558514.1:n.178C=
ENST00000558627.1:n.534+26C=
ENST00000561421.5:c.606+26C= ENSP00000453347.1:n.606+26C=
NM_000137.2:c.606+26C= NP_000128.1:n.606+26C=
XM_024449872.1:c.606+26C= XP_024305640.1:n.606+26C=
NM_000137.4:c.606+26C= MANE Select NP_000128.1:n.606+26C=
NM_001374377.1:c.606+26C= NP_001361306.1:n.606+26C=
NM_001374380.1:c.606+26C= NP_001361309.1:n.606+26C=