Canonical Allele Identifier: CA971894388
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152813-T-G
gnomAD v4: 15-80152813-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152813T>G , CM000677.2:g.80152813T>G GRCh38
NC_000015.9:g.80445155T>G , CM000677.1:g.80445155T>G GRCh37
NC_000015.8:g.78232210T>G NCBI36
NG_012833.1:g.4815T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-242T>G ENSP00000507680.1:n.-242T>G
ENST00000261755.9:c.-58T>G ENSP00000261755.5:n.-58T>G
ENST00000407106.5:c.-122T>G ENSP00000385080.1:n.-122T>G
ENST00000537726.5:n.25T>G
ENST00000558022.5:c.-29-213T>G ENSP00000453152.1:n.-29-213T>G
ENST00000558767.5:n.20T>G
NM_001374377.1:c.-122T>G NP_001361306.1:n.-122T>G
NM_001374380.1:c.-58T>G NP_001361309.1:n.-58T>G
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