Canonical Allele Identifier: CA393620412

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80464495T>A (hg19) ; chr15:g.80172153T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80172153T>A , CM000677.2:g.80172153T>A	GRCh38
NC_000015.9:g.80464495T>A , CM000677.1:g.80464495T>A	GRCh37
NC_000015.8:g.78251550T>A	NCBI36
NG_012833.1:g.24155T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.796-861T>A
ENST00000561421.6:c.611T>A MANE Select	ENSP00000453347.2:p.Phe204Tyr
ENST00000646551.1:n.2234-9T>A
ENST00000261755.9:c.611T>A	ENSP00000261755.5:p.Phe204Tyr
ENST00000407106.5:c.611T>A	ENSP00000385080.1:p.Phe204Tyr
ENST00000539156.5:c.401T>A	ENSP00000454271.1:p.Phe134Tyr
ENST00000558627.1:n.539T>A
ENST00000561421.5:c.611T>A	ENSP00000453347.1:p.Phe204Tyr
NM_000137.2:c.611T>A	NP_000128.1:p.Phe204Tyr
XM_024449872.1:c.611T>A	XP_024305640.1:p.Phe204Tyr
NM_000137.4:c.611T>A MANE Select	NP_000128.1:p.Phe204Tyr
NM_001374377.1:c.611T>A	NP_001361306.1:p.Phe204Tyr
NM_001374380.1:c.611T>A	NP_001361309.1:p.Phe204Tyr