Canonical Allele Identifier: CA16041757
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 371234
ClinVar RCV Id: RCV000409803
dbSNP Id: rs1057517113

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168088del , CM000677.2:g.80168088del GRCh38
NC_000015.9:g.80460430del , CM000677.1:g.80460430del GRCh37
NC_000015.8:g.78247485del NCBI36
NG_012833.1:g.20090del

Transcript Alleles

HGVS Amino-acid change
ENST00000682012.1:n.567del
ENST00000684569.1:n.537del
ENST00000561421.6:c.492del MANE Select ENSP00000453347.2:p.Ser165LeufsTer16
ENST00000646551.1:n.2119del
ENST00000261755.9:c.492del ENSP00000261755.5:p.Ser165LeufsTer16
ENST00000407106.5:c.492del ENSP00000385080.1:p.Ser165LeufsTer16
ENST00000539156.5:c.282del ENSP00000454271.1:p.Ser95LeufsTer16
ENST00000558514.1:n.38del
ENST00000558627.1:n.420del
ENST00000561421.5:c.492del ENSP00000453347.1:p.Ser165LeufsTer16
NM_000137.2:c.492del NP_000128.1:p.Ser165LeufsTer16
XM_024449872.1:c.492del XP_024305640.1:p.Ser165LeufsTer16
NM_000137.4:c.492del MANE Select NP_000128.1:p.Ser165LeufsTer16
NM_001374377.1:c.492del NP_001361306.1:p.Ser165LeufsTer16
NM_001374380.1:c.492del NP_001361309.1:p.Ser165LeufsTer16