Canonical Allele Identifier: CA3249793894
Community Standard Title: NM_000277.3(PAH):c.509+89_509+108dup
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866488_102866507dup , CM000674.2:g.102866488_102866507dup GRCh38
NC_000012.11:g.103260266_103260285dup , CM000674.1:g.103260266_103260285dup GRCh37
NC_000012.10:g.101784396_101784415dup NCBI36
NG_008690.1:g.56096_56115dup
NG_008690.2:g.96904_96923dup

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+89_509+108dup MANE Select NP_000268.1:n.509+89_509+108dup
ENST00000553106.6:c.509+89_509+108dup MANE Select ENSP00000448059.1:n.509+89_509+108dup
NM_000277.1:c.509+89_509+108dup NP_000268.1:n.509+89_509+108dup
NM_000277.2:c.509+89_509+108dup NP_000268.1:n.509+89_509+108dup
NM_001354304.1:c.509+89_509+108dup NP_001341233.1:n.509+89_509+108dup
NM_001354304.2:c.509+89_509+108dup NP_001341233.1:n.509+89_509+108dup
ENST00000307000.7:c.494+89_494+108dup ENSP00000303500.2:n.494+89_494+108dup
ENST00000549111.5:n.605+89_605+108dup
ENST00000551988.5:n.530+10955_530+10974dup
ENST00000553106.5:c.509+89_509+108dup ENSP00000448059.1:n.509+89_509+108dup
XM_011538422.1:c.509+89_509+108dup XP_011536724.1:n.509+89_509+108dup
XM_017019370.2:c.509+89_509+108dup XP_016874859.1:n.509+89_509+108dup
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