Canonical Allele Identifier: CA2190336629
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168263G= , CM000677.2:g.80168263G= GRCh38
NC_000015.9:g.80460605G= , CM000677.1:g.80460605G= GRCh37
NC_000015.8:g.78247660G= NCBI36
NG_012833.1:g.20265G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.742G=
ENST00000684569.1:n.599-1G=
ENST00000561421.6:c.554-1G= MANE Select ENSP00000453347.2:n.554-1G=
ENST00000646551.1:n.2181-1G=
ENST00000261755.9:c.554-1G= ENSP00000261755.5:n.554-1G=
ENST00000407106.5:c.554-1G= ENSP00000385080.1:n.554-1G=
ENST00000539156.5:c.344-1G= ENSP00000454271.1:n.344-1G=
ENST00000558514.1:n.100-1G=
ENST00000558627.1:n.482-1G=
ENST00000561421.5:c.554-1G= ENSP00000453347.1:n.554-1G=
NM_000137.2:c.554-1G= NP_000128.1:n.554-1G=
XM_024449872.1:c.554-1G= XP_024305640.1:n.554-1G=
NM_000137.4:c.554-1G= MANE Select NP_000128.1:n.554-1G=
NM_001374377.1:c.554-1G= NP_001361306.1:n.554-1G=
NM_001374380.1:c.554-1G= NP_001361309.1:n.554-1G=