Canonical Allele Identifier: CA2629872872
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152837T>C , CM000677.2:g.80152837T>C GRCh38
NC_000015.9:g.80445179T>C , CM000677.1:g.80445179T>C GRCh37
NC_000015.8:g.78232234T>C NCBI36
NG_012833.1:g.4839T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-218T>C ENSP00000507680.1:n.-218T>C
ENST00000261755.9:c.-34T>C ENSP00000261755.5:n.-34T>C
ENST00000407106.5:c.-98T>C ENSP00000385080.1:n.-98T>C
ENST00000537726.5:n.49T>C
ENST00000558022.5:c.-29-189T>C ENSP00000453152.1:n.-29-189T>C
ENST00000558767.5:n.44T>C
XM_024449872.1:c.-98T>C XP_024305640.1:n.-98T>C
NM_001374377.1:c.-98T>C NP_001361306.1:n.-98T>C
NM_001374380.1:c.-34T>C NP_001361309.1:n.-34T>C