Canonical Allele Identifier: CA7691194
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 381848
dbSNP Id: rs116272698

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168079C>T , CM000677.2:g.80168079C>T GRCh38
NC_000015.9:g.80460421C>T , CM000677.1:g.80460421C>T GRCh37
NC_000015.8:g.78247476C>T NCBI36
NG_012833.1:g.20081C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.558C>T
ENST00000684569.1:n.528C>T
ENST00000561421.6:c.483C>T MANE Select ENSP00000453347.2:p.Gly161=
ENST00000646551.1:n.2110C>T
ENST00000261755.9:c.483C>T ENSP00000261755.5:p.Gly161=
ENST00000407106.5:c.483C>T ENSP00000385080.1:p.Gly161=
ENST00000539156.5:c.273C>T ENSP00000454271.1:p.Gly91=
ENST00000558022.5:c.483C>T ENSP00000453152.1:p.Gly161=
ENST00000558514.1:n.29C>T
ENST00000558627.1:n.411C>T
ENST00000561421.5:c.483C>T ENSP00000453347.1:p.Gly161=
NM_000137.2:c.483C>T NP_000128.1:p.Gly161=
XM_024449872.1:c.483C>T XP_024305640.1:p.Gly161=
NM_000137.4:c.483C>T MANE Select NP_000128.1:p.Gly161=
NM_001374377.1:c.483C>T NP_001361306.1:p.Gly161=
NM_001374380.1:c.483C>T NP_001361309.1:p.Gly161=