Canonical Allele Identifier: CA2629872847
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152828T>G , CM000677.2:g.80152828T>G GRCh38
NC_000015.9:g.80445170T>G , CM000677.1:g.80445170T>G GRCh37
NC_000015.8:g.78232225T>G NCBI36
NG_012833.1:g.4830T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-227T>G ENSP00000507680.1:n.-227T>G
ENST00000261755.9:c.-43T>G ENSP00000261755.5:n.-43T>G
ENST00000407106.5:c.-107T>G ENSP00000385080.1:n.-107T>G
ENST00000537726.5:n.40T>G
ENST00000558022.5:c.-29-198T>G ENSP00000453152.1:n.-29-198T>G
ENST00000558767.5:n.35T>G
XM_024449872.1:c.-107T>G XP_024305640.1:n.-107T>G
NM_001374377.1:c.-107T>G NP_001361306.1:n.-107T>G
NM_001374380.1:c.-43T>G NP_001361309.1:n.-43T>G