Canonical Allele Identifier: CA393619990

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80460612C>G (hg19) ; chr15:g.80168270C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168270C>G , CM000677.2:g.80168270C>G	GRCh38
NC_000015.9:g.80460612C>G , CM000677.1:g.80460612C>G	GRCh37
NC_000015.8:g.78247667C>G	NCBI36
NG_012833.1:g.20272C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.749C>G
ENST00000684569.1:n.605C>G
ENST00000561421.6:c.560C>G MANE Select	ENSP00000453347.2:p.Pro187Arg
ENST00000646551.1:n.2187C>G
ENST00000261755.9:c.560C>G	ENSP00000261755.5:p.Pro187Arg
ENST00000407106.5:c.560C>G	ENSP00000385080.1:p.Pro187Arg
ENST00000539156.5:c.350C>G	ENSP00000454271.1:p.Pro117Arg
ENST00000558514.1:n.106C>G
ENST00000558627.1:n.488C>G
ENST00000561421.5:c.560C>G	ENSP00000453347.1:p.Pro187Arg
NM_000137.2:c.560C>G	NP_000128.1:p.Pro187Arg
XM_024449872.1:c.560C>G	XP_024305640.1:p.Pro187Arg
NM_000137.4:c.560C>G MANE Select	NP_000128.1:p.Pro187Arg
NM_001374377.1:c.560C>G	NP_001361306.1:p.Pro187Arg
NM_001374380.1:c.560C>G	NP_001361309.1:p.Pro187Arg