Canonical Allele Identifier: CA491675374

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80452169G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159827G>A , CM000677.2:g.80159827G>A	GRCh38
NC_000015.9:g.80452169G>A , CM000677.1:g.80452169G>A	GRCh37
NC_000015.8:g.78239224G>A	NCBI36
NG_012833.1:g.11829G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.264G>A	ENSP00000507680.1:p.Leu88=
ENST00000682012.1:n.339G>A
ENST00000683593.1:n.141G>A
ENST00000684363.1:c.264G>A	ENSP00000507314.1:p.Leu88=
ENST00000684569.1:n.309G>A
ENST00000561421.6:c.264G>A MANE Select	ENSP00000453347.2:p.Leu88=
ENST00000646551.1:n.1751G>A
ENST00000261755.9:c.264G>A	ENSP00000261755.5:p.Leu88=
ENST00000407106.5:c.264G>A	ENSP00000385080.1:p.Leu88=
ENST00000537726.5:n.346G>A
ENST00000539156.5:c.54G>A	ENSP00000454271.1:p.Leu18=
ENST00000558022.5:c.264G>A	ENSP00000453152.1:p.Leu88=
ENST00000558767.5:n.525G>A
ENST00000561369.1:n.344G>A
ENST00000561421.5:c.264G>A	ENSP00000453347.1:p.Leu88=
NM_000137.2:c.264G>A	NP_000128.1:p.Leu88=
XM_024449872.1:c.264G>A	XP_024305640.1:p.Leu88=
NM_000137.4:c.264G>A MANE Select	NP_000128.1:p.Leu88=
NM_001374377.1:c.264G>A	NP_001361306.1:p.Leu88=
NM_001374380.1:c.264G>A	NP_001361309.1:p.Leu88=