Canonical Allele Identifier: CA913184978
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 805813
ClinVar RCV Id: RCV000993630
dbSNP Id: rs672601294
ERepo: CA913184978/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894898_102894899dup , CM000674.2:g.102894898_102894899dup GRCh38
NC_000012.11:g.103288676_103288677dup , CM000674.1:g.103288676_103288677dup GRCh37
NC_000012.10:g.101812806_101812807dup NCBI36
NG_008690.1:g.27705_27706dup
NG_008690.2:g.68513_68514dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.189_190dup MANE Select ENSP00000448059.1:p.His64ProfsTer10
ENST00000307000.7:c.174_175dup ENSP00000303500.2:p.His59ProfsTer10
ENST00000546844.1:c.189_190dup ENSP00000446658.1:p.His64ProfsTer10
ENST00000548677.2:n.276_277dup
ENST00000548928.1:n.111_112dup
ENST00000549111.5:n.285_286dup
ENST00000550978.6:c.173_174dup
ENST00000551337.5:c.189_190dup ENSP00000447620.1:p.His64ProfsTer10
ENST00000551988.5:n.278_279dup
ENST00000553106.5:c.189_190dup ENSP00000448059.1:p.His64ProfsTer10
ENST00000635500.1:n.157_158dup
NM_000277.1:c.189_190dup NP_000268.1:p.His64ProfsTer10
XM_011538422.1:c.189_190dup XP_011536724.1:p.His64ProfsTer10
NM_000277.2:c.189_190dup NP_000268.1:p.His64ProfsTer10
NM_001354304.1:c.189_190dup NP_001341233.1:p.His64ProfsTer10
XM_017019370.2:c.189_190dup XP_016874859.1:p.His64ProfsTer10
NM_000277.3:c.189_190dup MANE Select NP_000268.1:p.His64ProfsTer10
NM_001354304.2:c.189_190dup NP_001341233.1:p.His64ProfsTer10
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