Canonical Allele Identifier: CA2629872779
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152783-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152783G>T , CM000677.2:g.80152783G>T GRCh38
NC_000015.9:g.80445125G>T , CM000677.1:g.80445125G>T GRCh37
NC_000015.8:g.78232180G>T NCBI36
NG_012833.1:g.4785G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407106.5:c.-152G>T ENSP00000385080.1:n.-152G>T
ENST00000558022.5:c.-30+238G>T ENSP00000453152.1:n.-30+238G>T
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