Canonical Allele Identifier: CA393618912
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80159811T>G , CM000677.2:g.80159811T>G GRCh38
NC_000015.9:g.80452153T>G , CM000677.1:g.80452153T>G GRCh37
NC_000015.8:g.78239208T>G NCBI36
NG_012833.1:g.11813T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.248T>G ENSP00000507680.1:p.Val83Gly
ENST00000682012.1:n.323T>G
ENST00000683593.1:n.125T>G
ENST00000684363.1:c.248T>G ENSP00000507314.1:p.Val83Gly
ENST00000684569.1:n.293T>G
ENST00000561421.6:c.248T>G MANE Select ENSP00000453347.2:p.Val83Gly
ENST00000646551.1:n.1735T>G
ENST00000261755.9:c.248T>G ENSP00000261755.5:p.Val83Gly
ENST00000407106.5:c.248T>G ENSP00000385080.1:p.Val83Gly
ENST00000537726.5:n.330T>G
ENST00000539156.5:c.38T>G ENSP00000454271.1:p.Val13Gly
ENST00000558022.5:c.248T>G ENSP00000453152.1:p.Val83Gly
ENST00000558767.5:n.509T>G
ENST00000561369.1:n.328T>G
ENST00000561421.5:c.248T>G ENSP00000453347.1:p.Val83Gly
NM_000137.2:c.248T>G NP_000128.1:p.Val83Gly
XM_024449872.1:c.248T>G XP_024305640.1:p.Val83Gly
NM_000137.4:c.248T>G MANE Select NP_000128.1:p.Val83Gly
NM_001374377.1:c.248T>G NP_001361306.1:p.Val83Gly
NM_001374380.1:c.248T>G NP_001361309.1:p.Val83Gly