Canonical Allele Identifier: CA491676755

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80454610C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162268C>G , CM000677.2:g.80162268C>G	GRCh38
NC_000015.9:g.80454610C>G , CM000677.1:g.80454610C>G	GRCh37
NC_000015.8:g.78241665C>G	NCBI36
NG_012833.1:g.14270C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.387C>G	ENSP00000507680.1:p.Ser129=
ENST00000682012.1:n.462C>G
ENST00000683593.1:n.2050C>G
ENST00000684363.1:c.365-124C>G	ENSP00000507314.1:n.365-124C>G
ENST00000684569.1:n.432C>G
ENST00000561421.6:c.387C>G MANE Select	ENSP00000453347.2:p.Ser129=
ENST00000646551.1:n.1874C>G
ENST00000261755.9:c.387C>G	ENSP00000261755.5:p.Ser129=
ENST00000407106.5:c.387C>G	ENSP00000385080.1:p.Ser129=
ENST00000537726.5:n.533C>G
ENST00000539156.5:c.177C>G	ENSP00000454271.1:p.Ser59=
ENST00000558022.5:c.387C>G	ENSP00000453152.1:p.Ser129=
ENST00000558627.1:n.315C>G
ENST00000558767.5:n.648C>G
ENST00000561369.1:n.531C>G
ENST00000561421.5:c.387C>G	ENSP00000453347.1:p.Ser129=
NM_000137.2:c.387C>G	NP_000128.1:p.Ser129=
XM_024449872.1:c.387C>G	XP_024305640.1:p.Ser129=
NM_000137.4:c.387C>G MANE Select	NP_000128.1:p.Ser129=
NM_001374377.1:c.387C>G	NP_001361306.1:p.Ser129=
NM_001374380.1:c.387C>G	NP_001361309.1:p.Ser129=