Canonical Allele Identifier: CA16041754
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 370334
ClinVar RCV Id: RCV000410626
dbSNP Id: rs1057516408

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80159878G>A , CM000677.2:g.80159878G>A GRCh38
NC_000015.9:g.80452220G>A , CM000677.1:g.80452220G>A GRCh37
NC_000015.8:g.78239275G>A NCBI36
NG_012833.1:g.11880G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000558767.6:c.314+1G>A ENSP00000507680.1:n.314+1G>A
ENST00000682012.1:n.389+1G>A
ENST00000683593.1:n.191+1G>A
ENST00000684363.1:c.314+1G>A ENSP00000507314.1:n.314+1G>A
ENST00000684569.1:n.359+1G>A
ENST00000561421.6:c.314+1G>A MANE Select ENSP00000453347.2:n.314+1G>A
ENST00000646551.1:n.1801+1G>A
ENST00000261755.9:c.314+1G>A ENSP00000261755.5:n.314+1G>A
ENST00000407106.5:c.314+1G>A ENSP00000385080.1:n.314+1G>A
ENST00000537726.5:n.396+1G>A
ENST00000539156.5:c.104+1G>A ENSP00000454271.1:n.104+1G>A
ENST00000558022.5:c.314+1G>A ENSP00000453152.1:n.314+1G>A
ENST00000558767.5:n.575+1G>A
ENST00000561369.1:n.394+1G>A
ENST00000561421.5:c.314+1G>A ENSP00000453347.1:n.314+1G>A
NM_000137.2:c.314+1G>A NP_000128.1:n.314+1G>A
XM_024449872.1:c.314+1G>A XP_024305640.1:n.314+1G>A
NM_000137.4:c.314+1G>A MANE Select NP_000128.1:n.314+1G>A
NM_001374377.1:c.314+1G>A NP_001361306.1:n.314+1G>A
NM_001374380.1:c.314+1G>A NP_001361309.1:n.314+1G>A