Canonical Allele Identifier: CA971894034
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041059000
gnomAD v3: 15-80152682-G-GC
gnomAD v4: 15-80152682-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152682_80152683insC , CM000677.2:g.80152682_80152683insC GRCh38
NC_000015.9:g.80445024_80445025insC , CM000677.1:g.80445024_80445025insC GRCh37
NC_000015.8:g.78232079_78232080insC NCBI36
NG_012833.1:g.4684_4685insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+137_-30+138insC ENSP00000453152.1:n.-30+137_-30+138insC
Search 100 bp 5'
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