Canonical Allele Identifier: CA2059456799
Community Standard Title: NM_000277.3(PAH):c.509+381T=
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866215A= , CM000674.2:g.102866215A= GRCh38
NC_000012.11:g.103259993A= , CM000674.1:g.103259993A= GRCh37
NC_000012.10:g.101784123A= NCBI36
NG_008690.1:g.56388T=
NG_008690.2:g.97196T=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+381T= MANE Select NP_000268.1:n.509+381T=
ENST00000553106.6:c.509+381T= MANE Select ENSP00000448059.1:n.509+381T=
NM_000277.1:c.509+381T= NP_000268.1:n.509+381T=
NM_000277.2:c.509+381T= NP_000268.1:n.509+381T=
NM_001354304.1:c.509+381T= NP_001341233.1:n.509+381T=
NM_001354304.2:c.509+381T= NP_001341233.1:n.509+381T=
ENST00000307000.7:c.494+381T= ENSP00000303500.2:n.494+381T=
ENST00000549111.5:n.605+381T=
ENST00000551988.5:n.531-10883T=
ENST00000553106.5:c.509+381T= ENSP00000448059.1:n.509+381T=
XM_011538422.1:c.509+381T= XP_011536724.1:n.509+381T=
XM_017019370.2:c.509+381T= XP_016874859.1:n.509+381T=
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