Canonical Allele Identifier: CA919600675

Gene: FAH

Linked Data

• dbSNP Id: rs1595888407

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152843_80152855dup , CM000677.2:g.80152843_80152855dup	GRCh38
NC_000015.9:g.80445185_80445197dup , CM000677.1:g.80445185_80445197dup	GRCh37
NC_000015.8:g.78232240_78232252dup	NCBI36
NG_012833.1:g.4845_4857dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-212_-200dup	ENSP00000507680.1:n.-212_-200dup
ENST00000261755.9:c.-30+2_-30+14dup
ENST00000407106.5:c.-92_-80dup	ENSP00000385080.1:n.-92_-80dup
ENST00000537726.5:n.53+2_53+14dup
ENST00000558022.5:c.-29-183_-29-171dup	ENSP00000453152.1:n.-29-183_-29-171dup
ENST00000558767.5:n.50_62dup
XM_024449872.1:c.-92_-80dup	XP_024305640.1:n.-92_-80dup
NM_001374377.1:c.-92_-80dup	NP_001361306.1:n.-92_-80dup
NM_001374380.1:c.-30+2_-30+14dup