Canonical Allele Identifier: CA121722
Gene: FAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11868
dbSNP Id: rs11555096

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80180184C>T , CM000677.2:g.80180184C>T GRCh38
NC_000015.9:g.80472526C>T , CM000677.1:g.80472526C>T GRCh37
NC_000015.8:g.78259581C>T NCBI36
NG_012833.1:g.32186C>T

Transcript Alleles

HGVS Amino-acid change
NM_000137.2:c.1021C>T VV NP_000128.1:p.Arg341Trp
XM_024449872.1:c.1021C>T XP_024305640.1:p.Arg341Trp
ENST00000261755.9:c.1021C>T ENSP00000261755.5:p.Arg341Trp
ENST00000407106.5:c.1021C>T ENSP00000385080.1:p.Arg341Trp
ENST00000539156.5:c.811C>T ENSP00000454271.1:p.Arg271Trp
ENST00000559217.1:n.238C>T
ENST00000561353.2:n.119C>T
ENST00000561421.5:c.1021C>T ENSP00000453347.1:p.Arg341Trp