Canonical Allele Identifier: CA2629872821
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152811-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152811T>C , CM000677.2:g.80152811T>C GRCh38
NC_000015.9:g.80445153T>C , CM000677.1:g.80445153T>C GRCh37
NC_000015.8:g.78232208T>C NCBI36
NG_012833.1:g.4813T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-244T>C ENSP00000507680.1:n.-244T>C
ENST00000261755.9:c.-60T>C ENSP00000261755.5:n.-60T>C
ENST00000407106.5:c.-124T>C ENSP00000385080.1:n.-124T>C
ENST00000537726.5:n.23T>C
ENST00000558022.5:c.-29-215T>C ENSP00000453152.1:n.-29-215T>C
ENST00000558767.5:n.18T>C
NM_001374377.1:c.-124T>C NP_001361306.1:n.-124T>C
NM_001374380.1:c.-60T>C NP_001361309.1:n.-60T>C
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