Canonical Allele Identifier: CA971893638
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1595888280
gnomAD v3: 15-80152623-A-G
gnomAD v4: 15-80152623-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152623A>G , CM000677.2:g.80152623A>G GRCh38
NC_000015.9:g.80444965A>G , CM000677.1:g.80444965A>G GRCh37
NC_000015.8:g.78232020A>G NCBI36
NG_012833.1:g.4625A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+78A>G ENSP00000453152.1:n.-30+78A>G
Search 100 bp 5'
Search 100 bp 3'