Canonical Allele Identifier: CA267625
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 120258
ClinVar RCV Id: RCV000106339
dbSNP Id: rs281865447

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843781T>A , CM000674.2:g.102843781T>A GRCh38
NC_000012.11:g.103237559T>A , CM000674.1:g.103237559T>A GRCh37
NC_000012.10:g.101761689T>A NCBI36
NG_008690.1:g.78822A>T
NG_008690.2:g.119630A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1066-2A>T MANE Select ENSP00000448059.1:n.1066-2A>T
ENST00000307000.7:c.1051-2A>T ENSP00000303500.2:n.1051-2A>T
ENST00000549247.6:n.825-2A>T
ENST00000551114.2:n.728-2A>T
ENST00000553106.5:c.1066-2A>T ENSP00000448059.1:n.1066-2A>T
ENST00000635477.1:c.170-2A>T
ENST00000635528.1:n.581-2A>T
NM_000277.1:c.1066-2A>T NP_000268.1:n.1066-2A>T
XM_011538422.1:c.1009-2A>T XP_011536724.1:n.1009-2A>T
NM_000277.2:c.1066-2A>T NP_000268.1:n.1066-2A>T
NM_001354304.1:c.1066-2A>T NP_001341233.1:n.1066-2A>T
NM_000277.3:c.1066-2A>T MANE Select NP_000268.1:n.1066-2A>T
NM_001354304.2:c.1066-2A>T NP_001341233.1:n.1066-2A>T