Canonical Allele Identifier: CA619266178
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1401019342
gnomAD v2: 15-80445149-A-G
gnomAD v3: 15-80152807-A-G
gnomAD v4: 15-80152807-A-G
MyVariant Identifiers: chr15:g.80445149A>G (hg19) chr15:g.80152807A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152807A>G , CM000677.2:g.80152807A>G GRCh38
NC_000015.9:g.80445149A>G , CM000677.1:g.80445149A>G GRCh37
NC_000015.8:g.78232204A>G NCBI36
NG_012833.1:g.4809A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-248A>G ENSP00000507680.1:n.-248A>G
ENST00000261755.9:c.-64A>G ENSP00000261755.5:n.-64A>G
ENST00000407106.5:c.-128A>G ENSP00000385080.1:n.-128A>G
ENST00000537726.5:n.19A>G
ENST00000558022.5:c.-29-219A>G ENSP00000453152.1:n.-29-219A>G
ENST00000558767.5:n.14A>G
NM_001374377.1:c.-128A>G NP_001361306.1:n.-128A>G
NM_001374380.1:c.-64A>G NP_001361309.1:n.-64A>G
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