Canonical Allele Identifier: CA7691253

Gene: FAH

Linked Data

• dbSNP Id: rs780649150
• ExAC: 15:80460630 G / A
• gnomAD v2: 15-80460630-G-A
• MyVariant Identifiers: chr15:g.80460630G>A (hg19) ; chr15:g.80168288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168288G>A , CM000677.2:g.80168288G>A	GRCh38
NC_000015.9:g.80460630G>A , CM000677.1:g.80460630G>A	GRCh37
NC_000015.8:g.78247685G>A	NCBI36
NG_012833.1:g.20290G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.767G>A
ENST00000684569.1:n.623G>A
ENST00000561421.6:c.578G>A MANE Select	ENSP00000453347.2:p.Cys193Tyr
ENST00000646551.1:n.2205G>A
ENST00000261755.9:c.578G>A	ENSP00000261755.5:p.Cys193Tyr
ENST00000407106.5:c.578G>A	ENSP00000385080.1:p.Cys193Tyr
ENST00000539156.5:c.368G>A	ENSP00000454271.1:p.Cys123Tyr
ENST00000558514.1:n.124G>A
ENST00000558627.1:n.506G>A
ENST00000561421.5:c.578G>A	ENSP00000453347.1:p.Cys193Tyr
NM_000137.2:c.578G>A	NP_000128.1:p.Cys193Tyr
XM_024449872.1:c.578G>A	XP_024305640.1:p.Cys193Tyr
NM_000137.4:c.578G>A MANE Select	NP_000128.1:p.Cys193Tyr
NM_001374377.1:c.578G>A	NP_001361306.1:p.Cys193Tyr
NM_001374380.1:c.578G>A	NP_001361309.1:p.Cys193Tyr