Canonical Allele Identifier: CA2190327417
Gene: FAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152806G= , CM000677.2:g.80152806G= GRCh38
NC_000015.9:g.80445148G= , CM000677.1:g.80445148G= GRCh37
NC_000015.8:g.78232203G= NCBI36
NG_012833.1:g.4808G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-249G= ENSP00000507680.1:n.-249G=
ENST00000261755.9:c.-65G= ENSP00000261755.5:n.-65G=
ENST00000407106.5:c.-129G= ENSP00000385080.1:n.-129G=
ENST00000537726.5:n.18G=
ENST00000558022.5:c.-29-220G= ENSP00000453152.1:n.-29-220G=
ENST00000558767.5:n.13G=
NM_001374377.1:c.-129G= NP_001361306.1:n.-129G=
NM_001374380.1:c.-65G= NP_001361309.1:n.-65G=
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