Canonical Allele Identifier: CA2059441746
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840468G= , CM000674.2:g.102840468G= GRCh38
NC_000012.11:g.103234246G= , CM000674.1:g.103234246G= GRCh37
NC_000012.10:g.101758376G= NCBI36
NG_008690.1:g.82135C=
NG_008690.2:g.122943C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1247C= MANE Select ENSP00000448059.1:p.Pro416=
ENST00000307000.7:c.1232C= ENSP00000303500.2:p.Pro411=
ENST00000551114.2:n.909C=
ENST00000553106.5:c.1247C= ENSP00000448059.1:p.Pro416=
ENST00000635477.1:c.351C=
ENST00000635528.1:n.762C=
NM_000277.1:c.1247C= NP_000268.1:p.Pro416=
XM_011538422.1:c.1190C= XP_011536724.1:p.Pro397=
NM_000277.2:c.1247C= NP_000268.1:p.Pro416=
NM_001354304.1:c.1247C= NP_001341233.1:p.Pro416=
NM_000277.3:c.1247C= MANE Select NP_000268.1:p.Pro416=
NM_001354304.2:c.1247C= NP_001341233.1:p.Pro416=
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