Canonical Allele Identifier: CA971894406
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152839-A-C
gnomAD v4: 15-80152839-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152839A>C , CM000677.2:g.80152839A>C GRCh38
NC_000015.9:g.80445181A>C , CM000677.1:g.80445181A>C GRCh37
NC_000015.8:g.78232236A>C NCBI36
NG_012833.1:g.4841A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-216A>C ENSP00000507680.1:n.-216A>C
ENST00000261755.9:c.-32A>C ENSP00000261755.5:n.-32A>C
ENST00000407106.5:c.-96A>C ENSP00000385080.1:n.-96A>C
ENST00000537726.5:n.51A>C
ENST00000558022.5:c.-29-187A>C ENSP00000453152.1:n.-29-187A>C
ENST00000558767.5:n.46A>C
XM_024449872.1:c.-96A>C XP_024305640.1:n.-96A>C
NM_001374377.1:c.-96A>C NP_001361306.1:n.-96A>C
NM_001374380.1:c.-32A>C NP_001361309.1:n.-32A>C
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