Canonical Allele Identifier: CA716102552

Gene: FAH

Linked Data

• dbSNP Id: rs1230366162
• gnomAD v4: 15-80152805-C-A
• MyVariant Identifiers: chr15:g.80445147C>A (hg19) ; chr15:g.80152805C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152805C>A , CM000677.2:g.80152805C>A	GRCh38
NC_000015.9:g.80445147C>A , CM000677.1:g.80445147C>A	GRCh37
NC_000015.8:g.78232202C>A	NCBI36
NG_012833.1:g.4807C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-250C>A	ENSP00000507680.1:n.-250C>A
ENST00000261755.9:c.-66C>A	ENSP00000261755.5:n.-66C>A
ENST00000407106.5:c.-130C>A	ENSP00000385080.1:n.-130C>A
ENST00000537726.5:n.17C>A
ENST00000558022.5:c.-29-221C>A	ENSP00000453152.1:n.-29-221C>A
ENST00000558767.5:n.12C>A
NM_001374377.1:c.-130C>A	NP_001361306.1:n.-130C>A
NM_001374380.1:c.-66C>A	NP_001361309.1:n.-66C>A