Canonical Allele Identifier: CA971894405
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152837-T-A
gnomAD v4: 15-80152837-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152837T>A , CM000677.2:g.80152837T>A GRCh38
NC_000015.9:g.80445179T>A , CM000677.1:g.80445179T>A GRCh37
NC_000015.8:g.78232234T>A NCBI36
NG_012833.1:g.4839T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-218T>A ENSP00000507680.1:n.-218T>A
ENST00000261755.9:c.-34T>A ENSP00000261755.5:n.-34T>A
ENST00000407106.5:c.-98T>A ENSP00000385080.1:n.-98T>A
ENST00000537726.5:n.49T>A
ENST00000558022.5:c.-29-189T>A ENSP00000453152.1:n.-29-189T>A
ENST00000558767.5:n.44T>A
XM_024449872.1:c.-98T>A XP_024305640.1:n.-98T>A
NM_001374377.1:c.-98T>A NP_001361306.1:n.-98T>A
NM_001374380.1:c.-34T>A NP_001361309.1:n.-34T>A
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