Canonical Allele Identifier: CA393619437

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80454648G>A (hg19) ; chr15:g.80162306G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162306G>A , CM000677.2:g.80162306G>A	GRCh38
NC_000015.9:g.80454648G>A , CM000677.1:g.80454648G>A	GRCh37
NC_000015.8:g.78241703G>A	NCBI36
NG_012833.1:g.14308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.425G>A	ENSP00000507680.1:p.Arg142Lys
ENST00000682012.1:n.500G>A
ENST00000683593.1:n.2088G>A
ENST00000684363.1:c.365-86G>A	ENSP00000507314.1:n.365-86G>A
ENST00000684569.1:n.470G>A
ENST00000561421.6:c.425G>A MANE Select	ENSP00000453347.2:p.Arg142Lys
ENST00000646551.1:n.1912G>A
ENST00000261755.9:c.425G>A	ENSP00000261755.5:p.Arg142Lys
ENST00000407106.5:c.425G>A	ENSP00000385080.1:p.Arg142Lys
ENST00000537726.5:n.571G>A
ENST00000539156.5:c.215G>A	ENSP00000454271.1:p.Arg72Lys
ENST00000558022.5:c.425G>A	ENSP00000453152.1:p.Arg142Lys
ENST00000558627.1:n.353G>A
ENST00000558767.5:n.686G>A
ENST00000561369.1:n.569G>A
ENST00000561421.5:c.425G>A	ENSP00000453347.1:p.Arg142Lys
NM_000137.2:c.425G>A	NP_000128.1:p.Arg142Lys
XM_024449872.1:c.425G>A	XP_024305640.1:p.Arg142Lys
NM_000137.4:c.425G>A MANE Select	NP_000128.1:p.Arg142Lys
NM_001374377.1:c.425G>A	NP_001361306.1:p.Arg142Lys
NM_001374380.1:c.425G>A	NP_001361309.1:p.Arg142Lys