Canonical Allele Identifier: CA2629872832
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152819-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152819A>C , CM000677.2:g.80152819A>C GRCh38
NC_000015.9:g.80445161A>C , CM000677.1:g.80445161A>C GRCh37
NC_000015.8:g.78232216A>C NCBI36
NG_012833.1:g.4821A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-236A>C ENSP00000507680.1:n.-236A>C
ENST00000261755.9:c.-52A>C ENSP00000261755.5:n.-52A>C
ENST00000407106.5:c.-116A>C ENSP00000385080.1:n.-116A>C
ENST00000537726.5:n.31A>C
ENST00000558022.5:c.-29-207A>C ENSP00000453152.1:n.-29-207A>C
ENST00000558767.5:n.26A>C
NM_001374377.1:c.-116A>C NP_001361306.1:n.-116A>C
NM_001374380.1:c.-52A>C NP_001361309.1:n.-52A>C
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