Canonical Allele Identifier: CA2190340921

Gene: FAH

Linked Data

• dbSNP Id: rs2041295174

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80177560dup , CM000677.2:g.80177560dup	GRCh38
NC_000015.9:g.80469902dup , CM000677.1:g.80469902dup	GRCh37
NC_000015.8:g.78256957dup	NCBI36
NG_012833.1:g.29562dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1026dup
ENST00000561421.6:c.937dup MANE Select	ENSP00000453347.2:p.Thr313AsnfsTer8
ENST00000646551.1:n.2551dup
ENST00000261755.9:c.937dup	ENSP00000261755.5:p.Thr313AsnfsTer8
ENST00000407106.5:c.937dup	ENSP00000385080.1:p.Thr313AsnfsTer8
ENST00000539156.5:c.727dup	ENSP00000454271.1:p.Thr243AsnfsTer8
ENST00000559217.1:n.154dup
ENST00000561353.2:c.35dup
ENST00000561421.5:c.937dup	ENSP00000453347.1:p.Thr313AsnfsTer8
NM_000137.2:c.937dup	NP_000128.1:p.Thr313AsnfsTer8
XM_024449872.1:c.937dup	XP_024305640.1:p.Thr313AsnfsTer8
NM_000137.4:c.937dup MANE Select	NP_000128.1:p.Thr313AsnfsTer8
NM_001374377.1:c.937dup	NP_001361306.1:p.Thr313AsnfsTer8
NM_001374380.1:c.937dup	NP_001361309.1:p.Thr313AsnfsTer8