Canonical Allele Identifier: CA3194757369
Community Standard Title: NM_000277.3(PAH):c.705G= (p.Gln235=)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855137C= , CM000674.2:g.102855137C= GRCh38
NC_000012.11:g.103248915C= , CM000674.1:g.103248915C= GRCh37
NC_000012.10:g.101773045C= NCBI36
NG_008690.1:g.67466G=
NG_008690.2:g.108274G=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.705G= MANE Select NP_000268.1:p.Gln235=
ENST00000553106.6:c.705G= MANE Select ENSP00000448059.1:p.Gln235=
NM_000277.1:c.705G= NP_000268.1:p.Gln235=
NM_000277.2:c.705G= NP_000268.1:p.Gln235=
NM_001354304.1:c.705G= NP_001341233.1:p.Gln235=
NM_001354304.2:c.705G= NP_001341233.1:p.Gln235=
ENST00000307000.7:c.690G= ENSP00000303500.2:p.Gln230=
ENST00000549111.5:n.801G=
ENST00000553106.5:c.705G= ENSP00000448059.1:p.Gln235=
XM_011538422.1:c.705G= XP_011536724.1:p.Gln235=
XM_017019370.2:c.705G= XP_016874859.1:p.Gln235=
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