Canonical Allele Identifier: CA7691062

Gene: FAH

Linked Data

• ClinVar Variation Id: 1951942
• ClinVar RCV Id: RCV002676609
• dbSNP Id: rs772218801
• ExAC: 15:80452129 A / G
• gnomAD v2: 15-80452129-A-G
• MyVariant Identifiers: chr15:g.80452129A>G (hg19) ; chr15:g.80159787A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159787A>G , CM000677.2:g.80159787A>G	GRCh38
NC_000015.9:g.80452129A>G , CM000677.1:g.80452129A>G	GRCh37
NC_000015.8:g.78239184A>G	NCBI36
NG_012833.1:g.11789A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.224A>G	ENSP00000507680.1:p.Gln75Arg
ENST00000682012.1:n.299A>G
ENST00000683593.1:n.101A>G
ENST00000684363.1:c.224A>G	ENSP00000507314.1:p.Gln75Arg
ENST00000684569.1:n.269A>G
ENST00000561421.6:c.224A>G MANE Select	ENSP00000453347.2:p.Gln75Arg
ENST00000646551.1:n.1711A>G
ENST00000261755.9:c.224A>G	ENSP00000261755.5:p.Gln75Arg
ENST00000407106.5:c.224A>G	ENSP00000385080.1:p.Gln75Arg
ENST00000537726.5:n.306A>G
ENST00000539156.5:c.14A>G	ENSP00000454271.1:p.Gln5Arg
ENST00000558022.5:c.224A>G	ENSP00000453152.1:p.Gln75Arg
ENST00000558767.5:n.485A>G
ENST00000561369.1:n.304A>G
ENST00000561421.5:c.224A>G	ENSP00000453347.1:p.Gln75Arg
NM_000137.2:c.224A>G	NP_000128.1:p.Gln75Arg
XM_024449872.1:c.224A>G	XP_024305640.1:p.Gln75Arg
NM_000137.4:c.224A>G MANE Select	NP_000128.1:p.Gln75Arg
NM_001374377.1:c.224A>G	NP_001361306.1:p.Gln75Arg
NM_001374380.1:c.224A>G	NP_001361309.1:p.Gln75Arg