Canonical Allele Identifier: CA619266135
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1354459169
gnomAD v2: 15-80444898-C-A
gnomAD v3: 15-80152556-C-A
gnomAD v4: 15-80152556-C-A
MyVariant Identifiers: chr15:g.80444898_80445050delinsAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCA (hg19) chr15:g.80152556_80152708delinsAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152556C>A , CM000677.2:g.80152556C>A GRCh38
NC_000015.9:g.80444898C>A , CM000677.1:g.80444898C>A GRCh37
NC_000015.8:g.78231953C>A NCBI36
NG_012833.1:g.4558C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+11C>A ENSP00000453152.1:n.-30+11C>A
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