Canonical Allele Identifier: CA386291621
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1044612
ClinVar RCV Id: RCV001348880
dbSNP Id: rs1874873096

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846917T>A , CM000674.2:g.102846917T>A GRCh38
NC_000012.11:g.103240695T>A , CM000674.1:g.103240695T>A GRCh37
NC_000012.10:g.101764825T>A NCBI36
NG_008690.1:g.75686A>T
NG_008690.2:g.116494A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.947A>T MANE Select ENSP00000448059.1:p.Glu316Val
ENST00000307000.7:c.932A>T ENSP00000303500.2:p.Glu311Val
ENST00000549247.6:n.706A>T
ENST00000551114.2:n.609A>T
ENST00000553106.5:c.947A>T ENSP00000448059.1:p.Glu316Val
ENST00000635477.1:c.74-2486A>T
ENST00000635528.1:n.462A>T
NM_000277.1:c.947A>T NP_000268.1:p.Glu316Val
XM_011538422.1:c.913-2486A>T XP_011536724.1:n.913-2486A>T
NM_000277.2:c.947A>T NP_000268.1:p.Glu316Val
NM_001354304.1:c.947A>T NP_001341233.1:p.Glu316Val
NM_000277.3:c.947A>T MANE Select NP_000268.1:p.Glu316Val
NM_001354304.2:c.947A>T NP_001341233.1:p.Glu316Val