Canonical Allele Identifier: CA2059446573
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843705C= , CM000674.2:g.102843705C= GRCh38
NC_000012.11:g.103237483C= , CM000674.1:g.103237483C= GRCh37
NC_000012.10:g.101761613C= NCBI36
NG_008690.1:g.78898G=
NG_008690.2:g.119706G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1140G= MANE Select ENSP00000448059.1:p.Thr380=
ENST00000307000.7:c.1125G= ENSP00000303500.2:p.Thr375=
ENST00000549247.6:n.899G=
ENST00000551114.2:n.802G=
ENST00000553106.5:c.1140G= ENSP00000448059.1:p.Thr380=
ENST00000635477.1:c.244G=
ENST00000635528.1:n.655G=
NM_000277.1:c.1140G= NP_000268.1:p.Thr380=
XM_011538422.1:c.1083G= XP_011536724.1:p.Thr361=
NM_000277.2:c.1140G= NP_000268.1:p.Thr380=
NM_001354304.1:c.1140G= NP_001341233.1:p.Thr380=
NM_000277.3:c.1140G= MANE Select NP_000268.1:p.Thr380=
NM_001354304.2:c.1140G= NP_001341233.1:p.Thr380=
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