Canonical Allele Identifier: CA2726967904
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs2136636098

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843848del , CM000674.2:g.102843848del GRCh38
NC_000012.11:g.103237626del , CM000674.1:g.103237626del GRCh37
NC_000012.10:g.101761756del NCBI36
NG_008690.1:g.78755del
NG_008690.2:g.119563del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1066-69del MANE Select ENSP00000448059.1:n.1066-69del
ENST00000307000.7:c.1051-69del ENSP00000303500.2:n.1051-69del
ENST00000549247.6:n.825-69del
ENST00000551114.2:n.728-69del
ENST00000553106.5:c.1066-69del ENSP00000448059.1:n.1066-69del
ENST00000635477.1:c.170-69del
ENST00000635528.1:n.581-69del
NM_000277.1:c.1066-69del NP_000268.1:n.1066-69del
XM_011538422.1:c.1009-69del XP_011536724.1:n.1009-69del
NM_000277.2:c.1066-69del NP_000268.1:n.1066-69del
NM_001354304.1:c.1066-69del NP_001341233.1:n.1066-69del
NM_000277.3:c.1066-69del MANE Select NP_000268.1:n.1066-69del
NM_001354304.2:c.1066-69del NP_001341233.1:n.1066-69del