Canonical Allele Identifier: CA229633
Community Standard Title: NM_000277.3(PAH):c.581T>C (p.Leu194Pro)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855261A>G , CM000674.2:g.102855261A>G GRCh38
NC_000012.11:g.103249039A>G , CM000674.1:g.103249039A>G GRCh37
NC_000012.10:g.101773169A>G NCBI36
NG_008690.1:g.67342T>C
NG_008690.2:g.108150T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.581T>C MANE Select NP_000268.1:p.Leu194Pro
ENST00000553106.6:c.581T>C MANE Select ENSP00000448059.1:p.Leu194Pro
NM_000277.1:c.581T>C NP_000268.1:p.Leu194Pro
NM_000277.2:c.581T>C NP_000268.1:p.Leu194Pro
NM_001354304.1:c.581T>C NP_001341233.1:p.Leu194Pro
NM_001354304.2:c.581T>C NP_001341233.1:p.Leu194Pro
ENST00000307000.7:c.566T>C ENSP00000303500.2:p.Leu189Pro
ENST00000549111.5:n.677T>C
ENST00000553106.5:c.581T>C ENSP00000448059.1:p.Leu194Pro
XM_011538422.1:c.581T>C XP_011536724.1:p.Leu194Pro
XM_017019370.2:c.581T>C XP_016874859.1:p.Leu194Pro
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