Canonical Allele Identifier: CA2629872873
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152838C>A , CM000677.2:g.80152838C>A GRCh38
NC_000015.9:g.80445180C>A , CM000677.1:g.80445180C>A GRCh37
NC_000015.8:g.78232235C>A NCBI36
NG_012833.1:g.4840C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-217C>A ENSP00000507680.1:n.-217C>A
ENST00000261755.9:c.-33C>A ENSP00000261755.5:n.-33C>A
ENST00000407106.5:c.-97C>A ENSP00000385080.1:n.-97C>A
ENST00000537726.5:n.50C>A
ENST00000558022.5:c.-29-188C>A ENSP00000453152.1:n.-29-188C>A
ENST00000558767.5:n.45C>A
XM_024449872.1:c.-97C>A XP_024305640.1:n.-97C>A
NM_001374377.1:c.-97C>A NP_001361306.1:n.-97C>A
NM_001374380.1:c.-33C>A NP_001361309.1:n.-33C>A