Canonical Allele Identifier: CA2059447033
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874707403
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843809del , CM000674.2:g.102843809del GRCh38
NC_000012.11:g.103237587del , CM000674.1:g.103237587del GRCh37
NC_000012.10:g.101761717del NCBI36
NG_008690.1:g.78794del
NG_008690.2:g.119602del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1066-30del MANE Select ENSP00000448059.1:n.1066-30del
ENST00000307000.7:c.1051-30del ENSP00000303500.2:n.1051-30del
ENST00000549247.6:n.825-30del
ENST00000551114.2:n.728-30del
ENST00000553106.5:c.1066-30del ENSP00000448059.1:n.1066-30del
ENST00000635477.1:c.170-30del
ENST00000635528.1:n.581-30del
NM_000277.1:c.1066-30del NP_000268.1:n.1066-30del
XM_011538422.1:c.1009-30del XP_011536724.1:n.1009-30del
NM_000277.2:c.1066-30del NP_000268.1:n.1066-30del
NM_001354304.1:c.1066-30del NP_001341233.1:n.1066-30del
NM_000277.3:c.1066-30del MANE Select NP_000268.1:n.1066-30del
NM_001354304.2:c.1066-30del NP_001341233.1:n.1066-30del
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