Canonical Allele Identifier: CA273113
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 92738
dbSNP Id: rs76394784

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894883T>A , CM000674.2:g.102894883T>A GRCh38
NC_000012.11:g.103288661T>A , CM000674.1:g.103288661T>A GRCh37
NC_000012.10:g.101812791T>A NCBI36
NG_008690.1:g.27720A>T
NG_008690.2:g.68528A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.204A>T MANE Select ENSP00000448059.1:p.Arg68Ser
ENST00000307000.7:c.189A>T ENSP00000303500.2:p.Arg63Ser
ENST00000546844.1:c.204A>T ENSP00000446658.1:p.Arg68Ser
ENST00000548677.2:n.291A>T
ENST00000548928.1:n.126A>T
ENST00000549111.5:n.300A>T
ENST00000550978.6:c.188A>T
ENST00000551337.5:c.204A>T ENSP00000447620.1:p.Arg68Ser
ENST00000551988.5:n.293A>T
ENST00000553106.5:c.204A>T ENSP00000448059.1:p.Arg68Ser
ENST00000635500.1:n.172A>T
NM_000277.1:c.204A>T NP_000268.1:p.Arg68Ser
XM_011538422.1:c.204A>T XP_011536724.1:p.Arg68Ser
NM_000277.2:c.204A>T NP_000268.1:p.Arg68Ser
NM_001354304.1:c.204A>T NP_001341233.1:p.Arg68Ser
XM_017019370.2:c.204A>T XP_016874859.1:p.Arg68Ser
NM_000277.3:c.204A>T MANE Select NP_000268.1:p.Arg68Ser
NM_001354304.2:c.204A>T NP_001341233.1:p.Arg68Ser