Canonical Allele Identifier: CA3197755669
Community Standard Title: NM_000277.3(PAH):c.706+107G=
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855029C= , CM000674.2:g.102855029C= GRCh38
NC_000012.11:g.103248807C= , CM000674.1:g.103248807C= GRCh37
NC_000012.10:g.101772937C= NCBI36
NG_008690.1:g.67574G=
NG_008690.2:g.108382G=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.706+107G= MANE Select NP_000268.1:n.706+107G=
ENST00000553106.6:c.706+107G= MANE Select ENSP00000448059.1:n.706+107G=
NM_000277.1:c.706+107G= NP_000268.1:n.706+107G=
NM_000277.2:c.706+107G= NP_000268.1:n.706+107G=
NM_001354304.1:c.706+107G= NP_001341233.1:n.706+107G=
NM_001354304.2:c.706+107G= NP_001341233.1:n.706+107G=
ENST00000307000.7:c.691+107G= ENSP00000303500.2:n.691+107G=
ENST00000549111.5:n.909G=
ENST00000553106.5:c.706+107G= ENSP00000448059.1:n.706+107G=
XM_011538422.1:c.706+107G= XP_011536724.1:n.706+107G=
XM_017019370.2:c.706+107G= XP_016874859.1:n.706+107G=
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