Canonical Allele Identifier: CA386492901
Community Standard Title: NM_000277.3(PAH):c.1317T>G (p.Ser439Arg)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102839217A>C , CM000674.2:g.102839217A>C GRCh38
NC_000012.11:g.103232995A>C , CM000674.1:g.103232995A>C GRCh37
NC_000012.10:g.101757125A>C NCBI36
NG_008690.1:g.83386T>G
NG_008690.2:g.124194T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1317T>G MANE Select NP_000268.1:p.Ser439Arg
ENST00000553106.6:c.1317T>G MANE Select ENSP00000448059.1:p.Ser439Arg
NM_000277.1:c.1317T>G NP_000268.1:p.Ser439Arg
NM_000277.2:c.1317T>G NP_000268.1:p.Ser439Arg
NM_001354304.1:c.1317T>G NP_001341233.1:p.Ser439Arg
NM_001354304.2:c.1317T>G NP_001341233.1:p.Ser439Arg
ENST00000307000.7:c.1302T>G ENSP00000303500.2:p.Ser434Arg
ENST00000551114.2:n.979T>G
ENST00000553106.5:c.1317T>G ENSP00000448059.1:p.Ser439Arg
ENST00000635477.1:c.421T>G
ENST00000635528.1:n.832T>G
XM_011538422.1:c.1260T>G XP_011536724.1:p.Ser420Arg
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