Canonical Allele Identifier: CA393622131

Gene: FAH

Linked Data

• dbSNP Id: rs1414668515
• MyVariant Identifiers: chr15:g.80478475A>G (hg19) ; chr15:g.80186133A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80186133A>G , CM000677.2:g.80186133A>G	GRCh38
NC_000015.9:g.80478475A>G , CM000677.1:g.80478475A>G	GRCh37
NC_000015.8:g.78265530A>G	NCBI36
NG_012833.1:g.38135A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.1273A>G
ENST00000561421.6:c.1184A>G MANE Select	ENSP00000453347.2:p.Tyr395Cys
ENST00000646551.1:n.2798A>G
ENST00000261755.9:c.1184A>G	ENSP00000261755.5:p.Tyr395Cys
ENST00000407106.5:c.1184A>G	ENSP00000385080.1:p.Tyr395Cys
ENST00000539156.5:c.974A>G	ENSP00000454271.1:p.Tyr325Cys
ENST00000559217.1:n.401A>G
ENST00000561421.5:c.1184A>G	ENSP00000453347.1:p.Tyr395Cys
NM_000137.2:c.1184A>G	NP_000128.1:p.Tyr395Cys
XM_024449872.1:c.1184A>G	XP_024305640.1:p.Tyr395Cys
NM_000137.4:c.1184A>G MANE Select	NP_000128.1:p.Tyr395Cys
NM_001374377.1:c.1184A>G	NP_001361306.1:p.Tyr395Cys
NM_001374380.1:c.1184A>G	NP_001361309.1:p.Tyr395Cys