Canonical Allele Identifier: CA2629875712

Gene: FAH

Linked Data

• gnomAD v4: 15-80180947-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180948dup , CM000677.2:g.80180948dup	GRCh38
NC_000015.9:g.80473290dup , CM000677.1:g.80473290dup	GRCh37
NC_000015.8:g.78260345dup	NCBI36
NG_012833.1:g.32950dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.1152-94dup
ENST00000561421.6:c.1063-94dup MANE Select	ENSP00000453347.2:n.1063-94dup
ENST00000646551.1:n.2677-94dup
ENST00000261755.9:c.1063-94dup	ENSP00000261755.5:n.1063-94dup
ENST00000407106.5:c.1063-94dup	ENSP00000385080.1:n.1063-94dup
ENST00000539156.5:c.853-94dup	ENSP00000454271.1:n.853-94dup
ENST00000559217.1:n.280-94dup
ENST00000561353.2:c.266-94dup
ENST00000561421.5:c.1063-94dup	ENSP00000453347.1:n.1063-94dup
NM_000137.2:c.1063-94dup	NP_000128.1:n.1063-94dup
XM_024449872.1:c.1063-94dup	XP_024305640.1:n.1063-94dup
NM_000137.4:c.1063-94dup MANE Select	NP_000128.1:n.1063-94dup
NM_001374377.1:c.1063-94dup	NP_001361306.1:n.1063-94dup
NM_001374380.1:c.1063-94dup	NP_001361309.1:n.1063-94dup