Canonical Allele Identifier: CA393615663
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80153134A>G , CM000677.2:g.80153134A>G GRCh38
NC_000015.9:g.80445476A>G , CM000677.1:g.80445476A>G GRCh37
NC_000015.8:g.78232531A>G NCBI36
NG_012833.1:g.5136A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.80A>G ENSP00000507680.1:p.Asp27Gly
ENST00000682012.1:n.155A>G
ENST00000684363.1:c.80A>G ENSP00000507314.1:p.Asp27Gly
ENST00000684569.1:n.125A>G
ENST00000561421.6:c.80A>G MANE Select ENSP00000453347.2:p.Asp27Gly
ENST00000261755.9:c.80A>G ENSP00000261755.5:p.Asp27Gly
ENST00000407106.5:c.80A>G ENSP00000385080.1:p.Asp27Gly
ENST00000537726.5:n.162A>G
ENST00000558022.5:c.80A>G ENSP00000453152.1:p.Asp27Gly
ENST00000558767.5:n.341A>G
ENST00000561369.1:n.160A>G
ENST00000561421.5:c.80A>G ENSP00000453347.1:p.Asp27Gly
NM_000137.2:c.80A>G NP_000128.1:p.Asp27Gly
XM_024449872.1:c.80A>G XP_024305640.1:p.Asp27Gly
NM_000137.4:c.80A>G MANE Select NP_000128.1:p.Asp27Gly
NM_001374377.1:c.80A>G NP_001361306.1:p.Asp27Gly
NM_001374380.1:c.80A>G NP_001361309.1:p.Asp27Gly