Canonical Allele Identifier: CA481333265
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2810941
ClinVar RCV Id: RCV003598991
MyVariant Identifiers: chr12:g.103288661T>C (hg19)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.204A>G MANE Select ENSP00000448059.1:p.Arg68=
ENST00000307000.7:c.189A>G ENSP00000303500.2:p.Arg63=
ENST00000546844.1:c.204A>G ENSP00000446658.1:p.Arg68=
ENST00000548677.2:n.291A>G
ENST00000548928.1:n.126A>G
ENST00000549111.5:n.300A>G
ENST00000550978.6:c.188A>G
ENST00000551337.5:c.204A>G ENSP00000447620.1:p.Arg68=
ENST00000551988.5:n.293A>G
ENST00000553106.5:c.204A>G ENSP00000448059.1:p.Arg68=
ENST00000635500.1:n.172A>G
NM_000277.1:c.204A>G NP_000268.1:p.Arg68=
XM_011538422.1:c.204A>G XP_011536724.1:p.Arg68=
NM_000277.2:c.204A>G NP_000268.1:p.Arg68=
NM_001354304.1:c.204A>G NP_001341233.1:p.Arg68=
XM_017019370.2:c.204A>G XP_016874859.1:p.Arg68=
NM_000277.3:c.204A>G MANE Select NP_000268.1:p.Arg68=
NM_001354304.2:c.204A>G NP_001341233.1:p.Arg68=
Search 100 bp 5'
Search 100 bp 3'