Canonical Allele Identifier: CA256100
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 11866
ClinVar RCV Id: RCV000012641
dbSNP Id: rs121965074

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80162282C>A , CM000677.2:g.80162282C>A GRCh38
NC_000015.9:g.80454624C>A , CM000677.1:g.80454624C>A GRCh37
NC_000015.8:g.78241679C>A NCBI36
NG_012833.1:g.14284C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000558767.6:c.401C>A ENSP00000507680.1:p.Ala134Asp
ENST00000682012.1:n.476C>A
ENST00000683593.1:n.2064C>A
ENST00000684363.1:c.365-110C>A ENSP00000507314.1:n.365-110C>A
ENST00000684569.1:n.446C>A
ENST00000561421.6:c.401C>A MANE Select ENSP00000453347.2:p.Ala134Asp
ENST00000646551.1:n.1888C>A
ENST00000261755.9:c.401C>A ENSP00000261755.5:p.Ala134Asp
ENST00000407106.5:c.401C>A ENSP00000385080.1:p.Ala134Asp
ENST00000537726.5:n.547C>A
ENST00000539156.5:c.191C>A ENSP00000454271.1:p.Ala64Asp
ENST00000558022.5:c.401C>A ENSP00000453152.1:p.Ala134Asp
ENST00000558627.1:n.329C>A
ENST00000558767.5:n.662C>A
ENST00000561369.1:n.545C>A
ENST00000561421.5:c.401C>A ENSP00000453347.1:p.Ala134Asp
NM_000137.2:c.401C>A NP_000128.1:p.Ala134Asp
XM_024449872.1:c.401C>A XP_024305640.1:p.Ala134Asp
NM_000137.4:c.401C>A MANE Select NP_000128.1:p.Ala134Asp
NM_001374377.1:c.401C>A NP_001361306.1:p.Ala134Asp
NM_001374380.1:c.401C>A NP_001361309.1:p.Ala134Asp