Canonical Allele Identifier: CA393618840

Gene: FAH

Linked Data

• dbSNP Id: rs2142092010
• MyVariant Identifiers: chr15:g.80452139G>T (hg19) ; chr15:g.80159797G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159797G>T , CM000677.2:g.80159797G>T	GRCh38
NC_000015.9:g.80452139G>T , CM000677.1:g.80452139G>T	GRCh37
NC_000015.8:g.78239194G>T	NCBI36
NG_012833.1:g.11799G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.234G>T	ENSP00000507680.1:p.Trp78Cys
ENST00000682012.1:n.309G>T
ENST00000683593.1:n.111G>T
ENST00000684363.1:c.234G>T	ENSP00000507314.1:p.Trp78Cys
ENST00000684569.1:n.279G>T
ENST00000561421.6:c.234G>T MANE Select	ENSP00000453347.2:p.Trp78Cys
ENST00000646551.1:n.1721G>T
ENST00000261755.9:c.234G>T	ENSP00000261755.5:p.Trp78Cys
ENST00000407106.5:c.234G>T	ENSP00000385080.1:p.Trp78Cys
ENST00000537726.5:n.316G>T
ENST00000539156.5:c.24G>T	ENSP00000454271.1:p.Trp8Cys
ENST00000558022.5:c.234G>T	ENSP00000453152.1:p.Trp78Cys
ENST00000558767.5:n.495G>T
ENST00000561369.1:n.314G>T
ENST00000561421.5:c.234G>T	ENSP00000453347.1:p.Trp78Cys
NM_000137.2:c.234G>T	NP_000128.1:p.Trp78Cys
XM_024449872.1:c.234G>T	XP_024305640.1:p.Trp78Cys
NM_000137.4:c.234G>T MANE Select	NP_000128.1:p.Trp78Cys
NM_001374377.1:c.234G>T	NP_001361306.1:p.Trp78Cys
NM_001374380.1:c.234G>T	NP_001361309.1:p.Trp78Cys