Canonical Allele Identifier: CA266811
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 92754
ClinVar RCV Id: RCV000078539
dbSNP Id: rs398123294
COSMIC: COSM467669

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846909C>A , CM000674.2:g.102846909C>A GRCh38
NC_000012.11:g.103240687C>A , CM000674.1:g.103240687C>A GRCh37
NC_000012.10:g.101764817C>A NCBI36
NG_008690.1:g.75694G>T
NG_008690.2:g.116502G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.955G>T MANE Select ENSP00000448059.1:p.Glu319Ter
ENST00000307000.7:c.940G>T ENSP00000303500.2:p.Glu314Ter
ENST00000549247.6:n.714G>T
ENST00000551114.2:n.617G>T
ENST00000553106.5:c.955G>T ENSP00000448059.1:p.Glu319Ter
ENST00000635477.1:n.74-2478G>T
ENST00000635528.1:n.470G>T
NM_000277.1:c.955G>T NP_000268.1:p.Glu319Ter
XM_011538422.1:c.913-2478G>T XP_011536724.1:n.913-2478G>T
NM_000277.2:c.955G>T NP_000268.1:p.Glu319Ter
NM_001354304.1:c.955G>T NP_001341233.1:p.Glu319Ter
NM_000277.3:c.955G>T MANE Select NP_000268.1:p.Glu319Ter
NM_001354304.2:c.955G>T NP_001341233.1:p.Glu319Ter