Canonical Allele Identifier: CA3197760563
Community Standard Title: NM_000277.3(PAH):c.509+498T=
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866098A= , CM000674.2:g.102866098A= GRCh38
NC_000012.11:g.103259876A= , CM000674.1:g.103259876A= GRCh37
NC_000012.10:g.101784006A= NCBI36
NG_008690.1:g.56505T=
NG_008690.2:g.97313T=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+498T= MANE Select NP_000268.1:n.509+498T=
ENST00000553106.6:c.509+498T= MANE Select ENSP00000448059.1:n.509+498T=
NM_000277.1:c.509+498T= NP_000268.1:n.509+498T=
NM_000277.2:c.509+498T= NP_000268.1:n.509+498T=
NM_001354304.1:c.509+498T= NP_001341233.1:n.509+498T=
NM_001354304.2:c.509+498T= NP_001341233.1:n.509+498T=
ENST00000307000.7:c.494+498T= ENSP00000303500.2:n.494+498T=
ENST00000549111.5:n.605+498T=
ENST00000551988.5:n.531-10766T=
ENST00000553106.5:c.509+498T= ENSP00000448059.1:n.509+498T=
XM_011538422.1:c.509+498T= XP_011536724.1:n.509+498T=
XM_017019370.2:c.509+498T= XP_016874859.1:n.509+498T=
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