Canonical Allele Identifier: CA2059441412
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840397T= , CM000674.2:g.102840397T= GRCh38
NC_000012.11:g.103234175T= , CM000674.1:g.103234175T= GRCh37
NC_000012.10:g.101758305T= NCBI36
NG_008690.1:g.82206A=
NG_008690.2:g.123014A=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+3A= MANE Select ENSP00000448059.1:n.1315+3A=
ENST00000307000.7:c.1300+3A= ENSP00000303500.2:n.1300+3A=
ENST00000551114.2:n.977+3A=
ENST00000553106.5:c.1315+3A= ENSP00000448059.1:n.1315+3A=
ENST00000635477.1:c.419+3A=
ENST00000635528.1:n.830+3A=
NM_000277.1:c.1315+3A= NP_000268.1:n.1315+3A=
XM_011538422.1:c.1258+3A= XP_011536724.1:n.1258+3A=
NM_000277.2:c.1315+3A= NP_000268.1:n.1315+3A=
NM_001354304.1:c.1315+3A= NP_001341233.1:n.1315+3A=
NM_000277.3:c.1315+3A= MANE Select NP_000268.1:n.1315+3A=
NM_001354304.2:c.1315+3A= NP_001341233.1:n.1315+3A=
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