Canonical Allele Identifier: CA393621692

Gene: FAH

Linked Data

• COSMIC: COSM4435925
• MyVariant Identifiers: chr15:g.80472488A>G (hg19) ; chr15:g.80180146A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180146A>G , CM000677.2:g.80180146A>G	GRCh38
NC_000015.9:g.80472488A>G , CM000677.1:g.80472488A>G	GRCh37
NC_000015.8:g.78259543A>G	NCBI36
NG_012833.1:g.32148A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1072A>G
ENST00000561421.6:c.983A>G MANE Select	ENSP00000453347.2:p.Gln328Arg
ENST00000646551.1:n.2597A>G
ENST00000261755.9:c.983A>G	ENSP00000261755.5:p.Gln328Arg
ENST00000407106.5:c.983A>G	ENSP00000385080.1:p.Gln328Arg
ENST00000539156.5:c.773A>G	ENSP00000454271.1:p.Gln258Arg
ENST00000559217.1:n.200A>G
ENST00000561353.2:c.81A>G
ENST00000561421.5:c.983A>G	ENSP00000453347.1:p.Gln328Arg
NM_000137.2:c.983A>G	NP_000128.1:p.Gln328Arg
XM_024449872.1:c.983A>G	XP_024305640.1:p.Gln328Arg
NM_000137.4:c.983A>G MANE Select	NP_000128.1:p.Gln328Arg
NM_001374377.1:c.983A>G	NP_001361306.1:p.Gln328Arg
NM_001374380.1:c.983A>G	NP_001361309.1:p.Gln328Arg