Canonical Allele Identifier: CA3194748067
Community Standard Title: NM_000277.3(PAH):c.1192A= (p.Lys398=)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843653T= , CM000674.2:g.102843653T= GRCh38
NC_000012.11:g.103237431T= , CM000674.1:g.103237431T= GRCh37
NC_000012.10:g.101761561T= NCBI36
NG_008690.1:g.78950A=
NG_008690.2:g.119758A=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1192A= MANE Select NP_000268.1:p.Lys398=
ENST00000553106.6:c.1192A= MANE Select ENSP00000448059.1:p.Lys398=
NM_000277.1:c.1192A= NP_000268.1:p.Lys398=
NM_000277.2:c.1192A= NP_000268.1:p.Lys398=
NM_001354304.1:c.1192A= NP_001341233.1:p.Lys398=
NM_001354304.2:c.1192A= NP_001341233.1:p.Lys398=
ENST00000307000.7:c.1177A= ENSP00000303500.2:p.Lys393=
ENST00000549247.6:n.951A=
ENST00000551114.2:n.854A=
ENST00000553106.5:c.1192A= ENSP00000448059.1:p.Lys398=
ENST00000635477.1:c.296A=
ENST00000635528.1:n.707A=
XM_011538422.1:c.1135A= XP_011536724.1:p.Lys379=
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