Canonical Allele Identifier: CA1139660759
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 970389
ClinVar RCV Id: RCV001245954
dbSNP Id: rs1876626818
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877540del , CM000674.2:g.102877540del GRCh38
NC_000012.11:g.103271318del , CM000674.1:g.103271318del GRCh37
NC_000012.10:g.101795448del NCBI36
NG_008690.1:g.45065del
NG_008690.2:g.85873del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.365del MANE Select ENSP00000448059.1:p.Pro122GlnfsTer?
ENST00000307000.7:c.350del ENSP00000303500.2:p.Pro117GlnfsTer?
ENST00000549111.5:n.461del
ENST00000550978.6:c.349del
ENST00000551337.5:c.365del ENSP00000447620.1:p.Pro122GlnfsTer?
ENST00000551988.5:n.454del
ENST00000553106.5:c.365del ENSP00000448059.1:p.Pro122GlnfsTer?
NM_000277.1:c.365del NP_000268.1:p.Pro122GlnfsTer?
XM_011538422.1:c.365del XP_011536724.1:p.Pro122GlnfsTer?
NM_000277.2:c.365del NP_000268.1:p.Pro122GlnfsTer?
NM_001354304.1:c.365del NP_001341233.1:p.Pro122GlnfsTer?
XM_017019370.2:c.365del XP_016874859.1:p.Pro122GlnfsTer?
NM_000277.3:c.365del MANE Select NP_000268.1:p.Pro122GlnfsTer?
NM_001354304.2:c.365del NP_001341233.1:p.Pro122GlnfsTer?
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