Canonical Allele Identifier: CA393619330

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80454597C>G (hg19) ; chr15:g.80162255C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162255C>G , CM000677.2:g.80162255C>G	GRCh38
NC_000015.9:g.80454597C>G , CM000677.1:g.80454597C>G	GRCh37
NC_000015.8:g.78241652C>G	NCBI36
NG_012833.1:g.14257C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.374C>G	ENSP00000507680.1:p.Thr125Arg
ENST00000682012.1:n.449C>G
ENST00000683593.1:n.2037C>G
ENST00000684363.1:c.365-137C>G	ENSP00000507314.1:n.365-137C>G
ENST00000684569.1:n.419C>G
ENST00000561421.6:c.374C>G MANE Select	ENSP00000453347.2:p.Thr125Arg
ENST00000646551.1:n.1861C>G
ENST00000261755.9:c.374C>G	ENSP00000261755.5:p.Thr125Arg
ENST00000407106.5:c.374C>G	ENSP00000385080.1:p.Thr125Arg
ENST00000537726.5:n.520C>G
ENST00000539156.5:c.164C>G	ENSP00000454271.1:p.Thr55Arg
ENST00000558022.5:c.374C>G	ENSP00000453152.1:p.Thr125Arg
ENST00000558627.1:n.302C>G
ENST00000558767.5:n.635C>G
ENST00000561369.1:n.518C>G
ENST00000561421.5:c.374C>G	ENSP00000453347.1:p.Thr125Arg
NM_000137.2:c.374C>G	NP_000128.1:p.Thr125Arg
XM_024449872.1:c.374C>G	XP_024305640.1:p.Thr125Arg
NM_000137.4:c.374C>G MANE Select	NP_000128.1:p.Thr125Arg
NM_001374377.1:c.374C>G	NP_001361306.1:p.Thr125Arg
NM_001374380.1:c.374C>G	NP_001361309.1:p.Thr125Arg