Canonical Allele Identifier: CA2059449333
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855200T= , CM000674.2:g.102855200T= GRCh38
NC_000012.11:g.103248978T= , CM000674.1:g.103248978T= GRCh37
NC_000012.10:g.101773108T= NCBI36
NG_008690.1:g.67403A=
NG_008690.2:g.108211A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.642A= MANE Select ENSP00000448059.1:p.Glu214=
ENST00000307000.7:c.627A= ENSP00000303500.2:p.Glu209=
ENST00000549111.5:n.738A=
ENST00000553106.5:c.642A= ENSP00000448059.1:p.Glu214=
NM_000277.1:c.642A= NP_000268.1:p.Glu214=
XM_011538422.1:c.642A= XP_011536724.1:p.Glu214=
NM_000277.2:c.642A= NP_000268.1:p.Glu214=
NM_001354304.1:c.642A= NP_001341233.1:p.Glu214=
XM_017019370.2:c.642A= XP_016874859.1:p.Glu214=
NM_000277.3:c.642A= MANE Select NP_000268.1:p.Glu214=
NM_001354304.2:c.642A= NP_001341233.1:p.Glu214=
Search 100 bp 5'
Search 100 bp 3'