Canonical Allele Identifier: CA2190327739
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152962G= , CM000677.2:g.80152962G= GRCh38
NC_000015.9:g.80445304G= , CM000677.1:g.80445304G= GRCh37
NC_000015.8:g.78232359G= NCBI36
NG_012833.1:g.4964G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-93G= ENSP00000507680.1:n.-93G=
ENST00000261755.9:c.-29-64G= ENSP00000261755.5:n.-29-64G=
ENST00000407106.5:c.-30+57G= ENSP00000385080.1:n.-30+57G=
ENST00000537726.5:n.54-64G=
ENST00000558022.5:c.-29-64G= ENSP00000453152.1:n.-29-64G=
ENST00000558767.5:n.169G=
ENST00000561369.1:n.51+57G=
ENST00000561421.5:c.-93G= ENSP00000453347.1:n.-93G=
NM_000137.2:c.-93G= NP_000128.1:n.-93G=
XM_024449872.1:c.-30+57G= XP_024305640.1:n.-30+57G=
NM_001374377.1:c.-30+57G= NP_001361306.1:n.-30+57G=
NM_001374380.1:c.-29-64G= NP_001361309.1:n.-29-64G=