Canonical Allele Identifier: CA2190327064
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs558270453
gnomAD v4: 15-80152656-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152656T>C , CM000677.2:g.80152656T>C GRCh38
NC_000015.9:g.80444998T>C , CM000677.1:g.80444998T>C GRCh37
NC_000015.8:g.78232053T>C NCBI36
NG_012833.1:g.4658T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+111T>C ENSP00000453152.1:n.-30+111T>C
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