Canonical Allele Identifier: CA2697551027
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2760789
ClinVar RCV Id: RCV003495980
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843730_102843731dup , CM000674.2:g.102843730_102843731dup GRCh38
NC_000012.11:g.103237508_103237509dup , CM000674.1:g.103237508_103237509dup GRCh37
NC_000012.10:g.101761638_101761639dup NCBI36
NG_008690.1:g.78873_78874dup
NG_008690.2:g.119681_119682dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1115_1116dup MANE Select ENSP00000448059.1:p.Ala373GlnfsTer28
ENST00000307000.7:c.1100_1101dup ENSP00000303500.2:p.Ala368GlnfsTer28
ENST00000549247.6:n.874_875dup
ENST00000551114.2:n.777_778dup
ENST00000553106.5:c.1115_1116dup ENSP00000448059.1:p.Ala373GlnfsTer28
ENST00000635477.1:c.219_220dup
ENST00000635528.1:n.630_631dup
NM_000277.1:c.1115_1116dup NP_000268.1:p.Ala373GlnfsTer28
XM_011538422.1:c.1058_1059dup XP_011536724.1:p.Ala354GlnfsTer28
NM_000277.2:c.1115_1116dup NP_000268.1:p.Ala373GlnfsTer28
NM_001354304.1:c.1115_1116dup NP_001341233.1:p.Ala373GlnfsTer28
NM_000277.3:c.1115_1116dup MANE Select NP_000268.1:p.Ala373GlnfsTer28
NM_001354304.2:c.1115_1116dup NP_001341233.1:p.Ala373GlnfsTer28
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