Canonical Allele Identifier: CA491682564

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80460475G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168133G>A , CM000677.2:g.80168133G>A	GRCh38
NC_000015.9:g.80460475G>A , CM000677.1:g.80460475G>A	GRCh37
NC_000015.8:g.78247530G>A	NCBI36
NG_012833.1:g.20135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.612G>A
ENST00000684569.1:n.582G>A
ENST00000561421.6:c.537G>A MANE Select	ENSP00000453347.2:p.Gln179=
ENST00000646551.1:n.2164G>A
ENST00000261755.9:c.537G>A	ENSP00000261755.5:p.Gln179=
ENST00000407106.5:c.537G>A	ENSP00000385080.1:p.Gln179=
ENST00000539156.5:c.327G>A	ENSP00000454271.1:p.Gln109=
ENST00000558514.1:n.83G>A
ENST00000558627.1:n.465G>A
ENST00000561421.5:c.537G>A	ENSP00000453347.1:p.Gln179=
NM_000137.2:c.537G>A	NP_000128.1:p.Gln179=
XM_024449872.1:c.537G>A	XP_024305640.1:p.Gln179=
NM_000137.4:c.537G>A MANE Select	NP_000128.1:p.Gln179=
NM_001374377.1:c.537G>A	NP_001361306.1:p.Gln179=
NM_001374380.1:c.537G>A	NP_001361309.1:p.Gln179=