Canonical Allele Identifier: CA2629872893
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152849G>A , CM000677.2:g.80152849G>A GRCh38
NC_000015.9:g.80445191G>A , CM000677.1:g.80445191G>A GRCh37
NC_000015.8:g.78232246G>A NCBI36
NG_012833.1:g.4851G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-206G>A ENSP00000507680.1:n.-206G>A
ENST00000261755.9:c.-30+8G>A ENSP00000261755.5:n.-30+8G>A
ENST00000407106.5:c.-86G>A ENSP00000385080.1:n.-86G>A
ENST00000537726.5:n.53+8G>A
ENST00000558022.5:c.-29-177G>A ENSP00000453152.1:n.-29-177G>A
ENST00000558767.5:n.56G>A
XM_024449872.1:c.-86G>A XP_024305640.1:n.-86G>A
NM_001374377.1:c.-86G>A NP_001361306.1:n.-86G>A
NM_001374380.1:c.-30+8G>A NP_001361309.1:n.-30+8G>A