Canonical Allele Identifier: CA619266128
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1422571870
gnomAD v2: 15-80444856-T-G
gnomAD v3: 15-80152514-T-G
gnomAD v4: 15-80152514-T-G
MyVariant Identifiers: chr15:g.80444856T>G (hg19) chr15:g.80152514T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152514T>G , CM000677.2:g.80152514T>G GRCh38
NC_000015.9:g.80444856T>G , CM000677.1:g.80444856T>G GRCh37
NC_000015.8:g.78231911T>G NCBI36
NG_012833.1:g.4516T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-61T>G ENSP00000453152.1:n.-61T>G
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