Canonical Allele Identifier: CA3194752126
Community Standard Title: NM_000277.3(PAH):c.950A= (p.Tyr317=)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846914T= , CM000674.2:g.102846914T= GRCh38
NC_000012.11:g.103240692T= , CM000674.1:g.103240692T= GRCh37
NC_000012.10:g.101764822T= NCBI36
NG_008690.1:g.75689A=
NG_008690.2:g.116497A=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.950A= MANE Select NP_000268.1:p.Tyr317=
ENST00000553106.6:c.950A= MANE Select ENSP00000448059.1:p.Tyr317=
NM_000277.1:c.950A= NP_000268.1:p.Tyr317=
NM_000277.2:c.950A= NP_000268.1:p.Tyr317=
NM_001354304.1:c.950A= NP_001341233.1:p.Tyr317=
NM_001354304.2:c.950A= NP_001341233.1:p.Tyr317=
ENST00000307000.7:c.935A= ENSP00000303500.2:p.Tyr312=
ENST00000549247.6:n.709A=
ENST00000551114.2:n.612A=
ENST00000553106.5:c.950A= ENSP00000448059.1:p.Tyr317=
ENST00000635477.1:c.74-2483A=
ENST00000635528.1:n.465A=
XM_011538422.1:c.913-2483A= XP_011536724.1:n.913-2483A=
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