Canonical Allele Identifier: CA2190327633
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152897A= , CM000677.2:g.80152897A= GRCh38
NC_000015.9:g.80445239A= , CM000677.1:g.80445239A= GRCh37
NC_000015.8:g.78232294A= NCBI36
NG_012833.1:g.4899A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-158A= ENSP00000507680.1:n.-158A=
ENST00000261755.9:c.-30+56A= ENSP00000261755.5:n.-30+56A=
ENST00000407106.5:c.-38A= ENSP00000385080.1:n.-38A=
ENST00000537726.5:n.53+56A=
ENST00000558022.5:c.-29-129A= ENSP00000453152.1:n.-29-129A=
ENST00000558767.5:n.104A=
ENST00000561369.1:n.43A=
ENST00000561421.5:c.-158A= ENSP00000453347.1:n.-158A=
NM_000137.2:c.-158A= NP_000128.1:n.-158A=
XM_024449872.1:c.-38A= XP_024305640.1:n.-38A=
NM_001374377.1:c.-38A= NP_001361306.1:n.-38A=
NM_001374380.1:c.-30+56A= NP_001361309.1:n.-30+56A=