Canonical Allele Identifier: CA2059451506
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846953T= , CM000674.2:g.102846953T= GRCh38
NC_000012.11:g.103240731T= , CM000674.1:g.103240731T= GRCh37
NC_000012.10:g.101764861T= NCBI36
NG_008690.1:g.75650A=
NG_008690.2:g.116458A=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.913-2A= MANE Select ENSP00000448059.1:n.913-2A=
ENST00000307000.7:c.898-2A= ENSP00000303500.2:n.898-2A=
ENST00000549247.6:n.672-2A=
ENST00000551114.2:n.575-2A=
ENST00000553106.5:c.913-2A= ENSP00000448059.1:n.913-2A=
ENST00000635477.1:c.74-2522A=
ENST00000635528.1:n.426A=
NM_000277.1:c.913-2A= NP_000268.1:n.913-2A=
XM_011538422.1:c.913-2522A= XP_011536724.1:n.913-2522A=
NM_000277.2:c.913-2A= NP_000268.1:n.913-2A=
NM_001354304.1:c.913-2A= NP_001341233.1:n.913-2A=
NM_000277.3:c.913-2A= MANE Select NP_000268.1:n.913-2A=
NM_001354304.2:c.913-2A= NP_001341233.1:n.913-2A=
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