Canonical Allele Identifier: CA716102498
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1231884616
gnomAD v3: 15-80152753-T-C
gnomAD v4: 15-80152753-T-C
MyVariant Identifiers: chr15:g.80445095T>C (hg19) chr15:g.80152753T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152753T>C , CM000677.2:g.80152753T>C GRCh38
NC_000015.9:g.80445095T>C , CM000677.1:g.80445095T>C GRCh37
NC_000015.8:g.78232150T>C NCBI36
NG_012833.1:g.4755T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+208T>C ENSP00000453152.1:n.-30+208T>C
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