Canonical Allele Identifier: CA971893739
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2142086263
gnomAD v3: 15-80152647-G-T
gnomAD v4: 15-80152647-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152647G>T , CM000677.2:g.80152647G>T GRCh38
NC_000015.9:g.80444989G>T , CM000677.1:g.80444989G>T GRCh37
NC_000015.8:g.78232044G>T NCBI36
NG_012833.1:g.4649G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+102G>T ENSP00000453152.1:n.-30+102G>T
Search 100 bp 5'
Search 100 bp 3'