Canonical Allele Identifier: CA2190336742
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168474G= , CM000677.2:g.80168474G= GRCh38
NC_000015.9:g.80460816G= , CM000677.1:g.80460816G= GRCh37
NC_000015.8:g.78247871G= NCBI36
NG_012833.1:g.20476G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.795+158G=
ENST00000684569.1:n.651+158G=
ENST00000561421.6:c.606+158G= MANE Select ENSP00000453347.2:n.606+158G=
ENST00000646551.1:n.2233+158G=
ENST00000261755.9:c.606+158G= ENSP00000261755.5:n.606+158G=
ENST00000407106.5:c.606+158G= ENSP00000385080.1:n.606+158G=
ENST00000539156.5:c.396+158G= ENSP00000454271.1:n.396+158G=
ENST00000558627.1:n.534+158G=
ENST00000561421.5:c.606+158G= ENSP00000453347.1:n.606+158G=
NM_000137.2:c.606+158G= NP_000128.1:n.606+158G=
XM_024449872.1:c.606+158G= XP_024305640.1:n.606+158G=
NM_000137.4:c.606+158G= MANE Select NP_000128.1:n.606+158G=
NM_001374377.1:c.606+158G= NP_001361306.1:n.606+158G=
NM_001374380.1:c.606+158G= NP_001361309.1:n.606+158G=