Canonical Allele Identifier: CA3197747009
Community Standard Title: NM_000277.3(PAH):c.918T= (p.Ile306=)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846946A= , CM000674.2:g.102846946A= GRCh38
NC_000012.11:g.103240724A= , CM000674.1:g.103240724A= GRCh37
NC_000012.10:g.101764854A= NCBI36
NG_008690.1:g.75657T=
NG_008690.2:g.116465T=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.918T= MANE Select NP_000268.1:p.Ile306=
ENST00000553106.6:c.918T= MANE Select ENSP00000448059.1:p.Ile306=
NM_000277.1:c.918T= NP_000268.1:p.Ile306=
NM_000277.2:c.918T= NP_000268.1:p.Ile306=
NM_001354304.1:c.918T= NP_001341233.1:p.Ile306=
NM_001354304.2:c.918T= NP_001341233.1:p.Ile306=
ENST00000307000.7:c.903T= ENSP00000303500.2:p.Ile301=
ENST00000549247.6:n.677T=
ENST00000551114.2:n.580T=
ENST00000553106.5:c.918T= ENSP00000448059.1:p.Ile306=
ENST00000635477.1:c.74-2515T=
ENST00000635528.1:n.433T=
XM_011538422.1:c.913-2515T= XP_011536724.1:n.913-2515T=
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