Canonical Allele Identifier: CA971901378

Gene: FAH

Linked Data

• dbSNP Id: rs2041366827
• gnomAD v3: 15-80185925-C-CG
• gnomAD v4: 15-80185925-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80185928dup , CM000677.2:g.80185928dup	GRCh38
NC_000015.9:g.80478270dup , CM000677.1:g.80478270dup	GRCh37
NC_000015.8:g.78265325dup	NCBI36
NG_012833.1:g.37930dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1270-202dup
ENST00000561421.6:c.1181-202dup MANE Select	ENSP00000453347.2:n.1181-202dup
ENST00000646551.1:n.2795-202dup
ENST00000261755.9:c.1181-202dup	ENSP00000261755.5:n.1181-202dup
ENST00000407106.5:c.1181-202dup	ENSP00000385080.1:n.1181-202dup
ENST00000539156.5:c.971-202dup	ENSP00000454271.1:n.971-202dup
ENST00000559217.1:n.398-202dup
ENST00000561421.5:c.1181-202dup	ENSP00000453347.1:n.1181-202dup
NM_000137.2:c.1181-202dup	NP_000128.1:n.1181-202dup
XM_024449872.1:c.1181-202dup	XP_024305640.1:n.1181-202dup
NM_000137.4:c.1181-202dup MANE Select	NP_000128.1:n.1181-202dup
NM_001374377.1:c.1181-202dup	NP_001361306.1:n.1181-202dup
NM_001374380.1:c.1181-202dup	NP_001361309.1:n.1181-202dup