Canonical Allele Identifier: CA2059446858
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843774G= , CM000674.2:g.102843774G= GRCh38
NC_000012.11:g.103237552G= , CM000674.1:g.103237552G= GRCh37
NC_000012.10:g.101761682G= NCBI36
NG_008690.1:g.78829C=
NG_008690.2:g.119637C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1071C= MANE Select ENSP00000448059.1:p.Cys357=
ENST00000307000.7:c.1056C= ENSP00000303500.2:p.Cys352=
ENST00000549247.6:n.830C=
ENST00000551114.2:n.733C=
ENST00000553106.5:c.1071C= ENSP00000448059.1:p.Cys357=
ENST00000635477.1:c.175C=
ENST00000635528.1:n.586C=
NM_000277.1:c.1071C= NP_000268.1:p.Cys357=
XM_011538422.1:c.1014C= XP_011536724.1:p.Cys338=
NM_000277.2:c.1071C= NP_000268.1:p.Cys357=
NM_001354304.1:c.1071C= NP_001341233.1:p.Cys357=
NM_000277.3:c.1071C= MANE Select NP_000268.1:p.Cys357=
NM_001354304.2:c.1071C= NP_001341233.1:p.Cys357=
Search 100 bp 5'
Search 100 bp 3'