Canonical Allele Identifier: CA2190327452
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152823G= , CM000677.2:g.80152823G= GRCh38
NC_000015.9:g.80445165G= , CM000677.1:g.80445165G= GRCh37
NC_000015.8:g.78232220G= NCBI36
NG_012833.1:g.4825G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-232G= ENSP00000507680.1:n.-232G=
ENST00000261755.9:c.-48G= ENSP00000261755.5:n.-48G=
ENST00000407106.5:c.-112G= ENSP00000385080.1:n.-112G=
ENST00000537726.5:n.35G=
ENST00000558022.5:c.-29-203G= ENSP00000453152.1:n.-29-203G=
ENST00000558767.5:n.30G=
XM_024449872.1:c.-112G= XP_024305640.1:n.-112G=
NM_001374377.1:c.-112G= NP_001361306.1:n.-112G=
NM_001374380.1:c.-48G= NP_001361309.1:n.-48G=