Canonical Allele Identifier: CA716102475
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1458820451
gnomAD v3: 15-80152706-G-GC
gnomAD v4: 15-80152706-G-GC
MyVariant Identifiers: chr15:g.80445048_80445049insC (hg19) chr15:g.80152706_80152707insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152707dup , CM000677.2:g.80152707dup GRCh38
NC_000015.9:g.80445049dup , CM000677.1:g.80445049dup GRCh37
NC_000015.8:g.78232104dup NCBI36
NG_012833.1:g.4709dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+162dup ENSP00000453152.1:n.-30+162dup
Search 100 bp 5'
Search 100 bp 3'