Canonical Allele Identifier: CA971893103
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041054280
gnomAD v3: 15-80152506-T-C
gnomAD v4: 15-80152506-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152506T>C , CM000677.2:g.80152506T>C GRCh38
NC_000015.9:g.80444848T>C , CM000677.1:g.80444848T>C GRCh37
NC_000015.8:g.78231903T>C NCBI36
NG_012833.1:g.4508T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-69T>C ENSP00000453152.1:n.-69T>C
Search 100 bp 5'
Search 100 bp 3'