Canonical Allele Identifier: CA658794924

Gene: FAH

Linked Data

• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168057_80168059dup , CM000677.2:g.80168057_80168059dup	GRCh38
NC_000015.9:g.80460399_80460401dup , CM000677.1:g.80460399_80460401dup	GRCh37
NC_000015.8:g.78247454_78247456dup	NCBI36
NG_012833.1:g.20059_20061dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.536_538dup
ENST00000684569.1:n.506_508dup
ENST00000561421.6:c.461_463dup MANE Select	ENSP00000453347.2:p.His154_Leu155insTyr
ENST00000646551.1:n.2088_2090dup
ENST00000261755.9:c.461_463dup	ENSP00000261755.5:p.His154_Leu155insTyr
ENST00000407106.5:c.461_463dup	ENSP00000385080.1:p.His154_Leu155insTyr
ENST00000539156.5:c.251_253dup	ENSP00000454271.1:p.His84_Leu85insTyr
ENST00000558022.5:c.461_463dup	ENSP00000453152.1:p.His154_Leu155insTyr
ENST00000558514.1:n.7_9dup
ENST00000558627.1:n.389_391dup
ENST00000561421.5:c.461_463dup	ENSP00000453347.1:p.His154_Leu155insTyr
NM_000137.2:c.461_463dup	NP_000128.1:p.His154_Leu155insTyr
XM_024449872.1:c.461_463dup	XP_024305640.1:p.His154_Leu155insTyr
NM_000137.4:c.461_463dup MANE Select	NP_000128.1:p.His154_Leu155insTyr
NM_001374377.1:c.461_463dup	NP_001361306.1:p.His154_Leu155insTyr
NM_001374380.1:c.461_463dup	NP_001361309.1:p.His154_Leu155insTyr