Canonical Allele Identifier: CA393618705
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80159767C>G , CM000677.2:g.80159767C>G GRCh38
NC_000015.9:g.80452109C>G , CM000677.1:g.80452109C>G GRCh37
NC_000015.8:g.78239164C>G NCBI36
NG_012833.1:g.11769C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.204C>G ENSP00000507680.1:p.Asn68Lys
ENST00000682012.1:n.279C>G
ENST00000683593.1:n.81C>G
ENST00000684363.1:c.204C>G ENSP00000507314.1:p.Asn68Lys
ENST00000684569.1:n.249C>G
ENST00000561421.6:c.204C>G MANE Select ENSP00000453347.2:p.Asn68Lys
ENST00000646551.1:n.1691C>G
ENST00000261755.9:c.204C>G ENSP00000261755.5:p.Asn68Lys
ENST00000407106.5:c.204C>G ENSP00000385080.1:p.Asn68Lys
ENST00000537726.5:n.286C>G
ENST00000539156.5:c.-7C>G ENSP00000454271.1:n.-7C>G
ENST00000558022.5:c.204C>G ENSP00000453152.1:p.Asn68Lys
ENST00000558767.5:n.465C>G
ENST00000561369.1:n.284C>G
ENST00000561421.5:c.204C>G ENSP00000453347.1:p.Asn68Lys
NM_000137.2:c.204C>G NP_000128.1:p.Asn68Lys
XM_024449872.1:c.204C>G XP_024305640.1:p.Asn68Lys
NM_000137.4:c.204C>G MANE Select NP_000128.1:p.Asn68Lys
NM_001374377.1:c.204C>G NP_001361306.1:p.Asn68Lys
NM_001374380.1:c.204C>G NP_001361309.1:p.Asn68Lys