Canonical Allele Identifier: CA7690981

Gene: FAH

Linked Data

• dbSNP Id: rs569070594
• ExAC: 15:80445477 C / A
• gnomAD v2: 15-80445477-C-A
• gnomAD v3: 15-80153135-C-A
• gnomAD v4: 15-80153135-C-A
• MyVariant Identifiers: chr15:g.80445477C>A (hg19) ; chr15:g.80153135C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153135C>A , CM000677.2:g.80153135C>A	GRCh38
NC_000015.9:g.80445477C>A , CM000677.1:g.80445477C>A	GRCh37
NC_000015.8:g.78232532C>A	NCBI36
NG_012833.1:g.5137C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81C>A	ENSP00000507680.1:p.Asp27Glu
ENST00000682012.1:n.156C>A
ENST00000684363.1:c.81C>A	ENSP00000507314.1:p.Asp27Glu
ENST00000684569.1:n.126C>A
ENST00000561421.6:c.81C>A MANE Select	ENSP00000453347.2:p.Asp27Glu
ENST00000261755.9:c.81C>A	ENSP00000261755.5:p.Asp27Glu
ENST00000407106.5:c.81C>A	ENSP00000385080.1:p.Asp27Glu
ENST00000537726.5:n.163C>A
ENST00000558022.5:c.81C>A	ENSP00000453152.1:p.Asp27Glu
ENST00000558767.5:n.342C>A
ENST00000561369.1:n.161C>A
ENST00000561421.5:c.81C>A	ENSP00000453347.1:p.Asp27Glu
NM_000137.2:c.81C>A	NP_000128.1:p.Asp27Glu
XM_024449872.1:c.81C>A	XP_024305640.1:p.Asp27Glu
NM_000137.4:c.81C>A MANE Select	NP_000128.1:p.Asp27Glu
NM_001374377.1:c.81C>A	NP_001361306.1:p.Asp27Glu
NM_001374380.1:c.81C>A	NP_001361309.1:p.Asp27Glu