Canonical Allele Identifier: CA2190326900
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041056945
gnomAD v4: 15-80152613-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152613A>G , CM000677.2:g.80152613A>G GRCh38
NC_000015.9:g.80444955A>G , CM000677.1:g.80444955A>G GRCh37
NC_000015.8:g.78232010A>G NCBI36
NG_012833.1:g.4615A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+68A>G ENSP00000453152.1:n.-30+68A>G
Search 100 bp 5'
Search 100 bp 3'