Canonical Allele Identifier: CA2059449324
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855197C= , CM000674.2:g.102855197C= GRCh38
NC_000012.11:g.103248975C= , CM000674.1:g.103248975C= GRCh37
NC_000012.10:g.101773105C= NCBI36
NG_008690.1:g.67406G=
NG_008690.2:g.108214G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.645G= MANE Select ENSP00000448059.1:p.Lys215=
ENST00000307000.7:c.630G= ENSP00000303500.2:p.Lys210=
ENST00000549111.5:n.741G=
ENST00000553106.5:c.645G= ENSP00000448059.1:p.Lys215=
NM_000277.1:c.645G= NP_000268.1:p.Lys215=
XM_011538422.1:c.645G= XP_011536724.1:p.Lys215=
NM_000277.2:c.645G= NP_000268.1:p.Lys215=
NM_001354304.1:c.645G= NP_001341233.1:p.Lys215=
XM_017019370.2:c.645G= XP_016874859.1:p.Lys215=
NM_000277.3:c.645G= MANE Select NP_000268.1:p.Lys215=
NM_001354304.2:c.645G= NP_001341233.1:p.Lys215=
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