Canonical Allele Identifier: CA619266125
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1181908136
gnomAD v2: 15-80444838-G-C
gnomAD v3: 15-80152496-G-C
gnomAD v4: 15-80152496-G-C
MyVariant Identifiers: chr15:g.80444838G>C (hg19) chr15:g.80152496G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152496G>C , CM000677.2:g.80152496G>C GRCh38
NC_000015.9:g.80444838G>C , CM000677.1:g.80444838G>C GRCh37
NC_000015.8:g.78231893G>C NCBI36
NG_012833.1:g.4498G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-79G>C ENSP00000453152.1:n.-79G>C
Search 100 bp 5'
Search 100 bp 3'