Canonical Allele Identifier: CA619266143

Gene: FAH

Linked Data

• dbSNP Id: rs1333427678
• gnomAD v2: 15-80444925-A-C
• gnomAD v3: 15-80152583-A-C
• gnomAD v4: 15-80152583-A-C
• MyVariant Identifiers: chr15:g.80444925A>C (hg19) ; chr15:g.80444925_80444926delinsCG (hg19) ; chr15:g.80152583A>C (hg38) ; chr15:g.80152583_80152584delinsCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152583A>C , CM000677.2:g.80152583A>C	GRCh38
NC_000015.9:g.80444925A>C , CM000677.1:g.80444925A>C	GRCh37
NC_000015.8:g.78231980A>C	NCBI36
NG_012833.1:g.4585A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+38A>C	ENSP00000453152.1:n.-30+38A>C