Canonical Allele Identifier: CA393618869

Gene: FAH

Linked Data

• gnomAD v4: 15-80159802-A-T
• MyVariant Identifiers: chr15:g.80452144A>T (hg19) ; chr15:g.80159802A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159802A>T , CM000677.2:g.80159802A>T	GRCh38
NC_000015.9:g.80452144A>T , CM000677.1:g.80452144A>T	GRCh37
NC_000015.8:g.78239199A>T	NCBI36
NG_012833.1:g.11804A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.239A>T	ENSP00000507680.1:p.Glu80Val
ENST00000682012.1:n.314A>T
ENST00000683593.1:n.116A>T
ENST00000684363.1:c.239A>T	ENSP00000507314.1:p.Glu80Val
ENST00000684569.1:n.284A>T
ENST00000561421.6:c.239A>T MANE Select	ENSP00000453347.2:p.Glu80Val
ENST00000646551.1:n.1726A>T
ENST00000261755.9:c.239A>T	ENSP00000261755.5:p.Glu80Val
ENST00000407106.5:c.239A>T	ENSP00000385080.1:p.Glu80Val
ENST00000537726.5:n.321A>T
ENST00000539156.5:c.29A>T	ENSP00000454271.1:p.Glu10Val
ENST00000558022.5:c.239A>T	ENSP00000453152.1:p.Glu80Val
ENST00000558767.5:n.500A>T
ENST00000561369.1:n.319A>T
ENST00000561421.5:c.239A>T	ENSP00000453347.1:p.Glu80Val
NM_000137.2:c.239A>T	NP_000128.1:p.Glu80Val
XM_024449872.1:c.239A>T	XP_024305640.1:p.Glu80Val
NM_000137.4:c.239A>T MANE Select	NP_000128.1:p.Glu80Val
NM_001374377.1:c.239A>T	NP_001361306.1:p.Glu80Val
NM_001374380.1:c.239A>T	NP_001361309.1:p.Glu80Val