Canonical Allele Identifier: CA2190327540
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152859G= , CM000677.2:g.80152859G= GRCh38
NC_000015.9:g.80445201G= , CM000677.1:g.80445201G= GRCh37
NC_000015.8:g.78232256G= NCBI36
NG_012833.1:g.4861G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-196G= ENSP00000507680.1:n.-196G=
ENST00000261755.9:c.-30+18G= ENSP00000261755.5:n.-30+18G=
ENST00000407106.5:c.-76G= ENSP00000385080.1:n.-76G=
ENST00000537726.5:n.53+18G=
ENST00000558022.5:c.-29-167G= ENSP00000453152.1:n.-29-167G=
ENST00000558767.5:n.66G=
ENST00000561369.1:n.5G=
XM_024449872.1:c.-76G= XP_024305640.1:n.-76G=
NM_001374377.1:c.-76G= NP_001361306.1:n.-76G=
NM_001374380.1:c.-30+18G= NP_001361309.1:n.-30+18G=