Canonical Allele Identifier: CA619266177
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1171453760
gnomAD v2: 15-80445144-G-A
gnomAD v3: 15-80152802-G-A
gnomAD v4: 15-80152802-G-A
MyVariant Identifiers: chr15:g.80445144G>A (hg19) chr15:g.80152802G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152802G>A , CM000677.2:g.80152802G>A GRCh38
NC_000015.9:g.80445144G>A , CM000677.1:g.80445144G>A GRCh37
NC_000015.8:g.78232199G>A NCBI36
NG_012833.1:g.4804G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-253G>A ENSP00000507680.1:n.-253G>A
ENST00000261755.9:c.-69G>A ENSP00000261755.5:n.-69G>A
ENST00000407106.5:c.-133G>A ENSP00000385080.1:n.-133G>A
ENST00000537726.5:n.14G>A
ENST00000558022.5:c.-29-224G>A ENSP00000453152.1:n.-29-224G>A
ENST00000558767.5:n.9G>A
NM_001374377.1:c.-133G>A NP_001361306.1:n.-133G>A
NM_001374380.1:c.-69G>A NP_001361309.1:n.-69G>A
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