Canonical Allele Identifier: CA274010812
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1210808
ClinVar RCV Id: RCV001581530
dbSNP Id: rs542873475
gnomAD v2: 15-80445189-G-T
gnomAD v3: 15-80152847-G-T
gnomAD v4: 15-80152847-G-T
MyVariant Identifiers: chr15:g.80445189G>T (hg19) chr15:g.80152847G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152847G>T , CM000677.2:g.80152847G>T GRCh38
NC_000015.9:g.80445189G>T , CM000677.1:g.80445189G>T GRCh37
NC_000015.8:g.78232244G>T NCBI36
NG_012833.1:g.4849G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-208G>T ENSP00000507680.1:n.-208G>T
ENST00000261755.9:c.-30+6G>T ENSP00000261755.5:n.-30+6G>T
ENST00000407106.5:c.-88G>T ENSP00000385080.1:n.-88G>T
ENST00000537726.5:n.53+6G>T
ENST00000558022.5:c.-29-179G>T ENSP00000453152.1:n.-29-179G>T
ENST00000558767.5:n.54G>T
XM_024449872.1:c.-88G>T XP_024305640.1:n.-88G>T
NM_001374377.1:c.-88G>T NP_001361306.1:n.-88G>T
NM_001374380.1:c.-30+6G>T NP_001361309.1:n.-30+6G>T
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