Canonical Allele Identifier: CA393620032
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168291A>G , CM000677.2:g.80168291A>G GRCh38
NC_000015.9:g.80460633A>G , CM000677.1:g.80460633A>G GRCh37
NC_000015.8:g.78247688A>G NCBI36
NG_012833.1:g.20293A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.770A>G
ENST00000684569.1:n.626A>G
ENST00000561421.6:c.581A>G MANE Select ENSP00000453347.2:p.Lys194Arg
ENST00000646551.1:n.2208A>G
ENST00000261755.9:c.581A>G ENSP00000261755.5:p.Lys194Arg
ENST00000407106.5:c.581A>G ENSP00000385080.1:p.Lys194Arg
ENST00000539156.5:c.371A>G ENSP00000454271.1:p.Lys124Arg
ENST00000558514.1:n.127A>G
ENST00000558627.1:n.509A>G
ENST00000561421.5:c.581A>G ENSP00000453347.1:p.Lys194Arg
NM_000137.2:c.581A>G NP_000128.1:p.Lys194Arg
XM_024449872.1:c.581A>G XP_024305640.1:p.Lys194Arg
NM_000137.4:c.581A>G MANE Select NP_000128.1:p.Lys194Arg
NM_001374377.1:c.581A>G NP_001361306.1:p.Lys194Arg
NM_001374380.1:c.581A>G NP_001361309.1:p.Lys194Arg