Canonical Allele Identifier: CA2629872795
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152790C>A , CM000677.2:g.80152790C>A GRCh38
NC_000015.9:g.80445132C>A , CM000677.1:g.80445132C>A GRCh37
NC_000015.8:g.78232187C>A NCBI36
NG_012833.1:g.4792C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407106.5:c.-145C>A ENSP00000385080.1:n.-145C>A
ENST00000537726.5:n.2C>A
ENST00000558022.5:c.-29-236C>A ENSP00000453152.1:n.-29-236C>A
NM_001374377.1:c.-145C>A NP_001361306.1:n.-145C>A
NM_001374380.1:c.-81C>A NP_001361309.1:n.-81C>A