Canonical Allele Identifier: CA2059430925
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102839218C= , CM000674.2:g.102839218C= GRCh38
NC_000012.11:g.103232996C= , CM000674.1:g.103232996C= GRCh37
NC_000012.10:g.101757126C= NCBI36
NG_008690.1:g.83385G=
NG_008690.2:g.124193G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1316G= MANE Select ENSP00000448059.1:p.Ser439=
ENST00000307000.7:c.1301G= ENSP00000303500.2:p.Ser434=
ENST00000551114.2:n.978G=
ENST00000553106.5:c.1316G= ENSP00000448059.1:p.Ser439=
ENST00000635477.1:c.420G=
ENST00000635528.1:n.831G=
NM_000277.1:c.1316G= NP_000268.1:p.Ser439=
XM_011538422.1:c.1259G= XP_011536724.1:p.Ser420=
NM_000277.2:c.1316G= NP_000268.1:p.Ser439=
NM_001354304.1:c.1316G= NP_001341233.1:p.Ser439=
NM_000277.3:c.1316G= MANE Select NP_000268.1:p.Ser439=
NM_001354304.2:c.1316G= NP_001341233.1:p.Ser439=