Canonical Allele Identifier: CA2629872816
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152809A>T , CM000677.2:g.80152809A>T GRCh38
NC_000015.9:g.80445151A>T , CM000677.1:g.80445151A>T GRCh37
NC_000015.8:g.78232206A>T NCBI36
NG_012833.1:g.4811A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-246A>T ENSP00000507680.1:n.-246A>T
ENST00000261755.9:c.-62A>T ENSP00000261755.5:n.-62A>T
ENST00000407106.5:c.-126A>T ENSP00000385080.1:n.-126A>T
ENST00000537726.5:n.21A>T
ENST00000558022.5:c.-29-217A>T ENSP00000453152.1:n.-29-217A>T
ENST00000558767.5:n.16A>T
NM_001374377.1:c.-126A>T NP_001361306.1:n.-126A>T
NM_001374380.1:c.-62A>T NP_001361309.1:n.-62A>T