Canonical Allele Identifier: CA2059430952
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102839244G= , CM000674.2:g.102839244G= GRCh38
NC_000012.11:g.103233022G= , CM000674.1:g.103233022G= GRCh37
NC_000012.10:g.101757152G= NCBI36
NG_008690.1:g.83359C=
NG_008690.2:g.124167C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1316-26C= MANE Select ENSP00000448059.1:n.1316-26C=
ENST00000307000.7:c.1301-26C= ENSP00000303500.2:n.1301-26C=
ENST00000551114.2:n.978-26C=
ENST00000553106.5:c.1316-26C= ENSP00000448059.1:n.1316-26C=
ENST00000635477.1:c.420-26C=
ENST00000635528.1:n.831-26C=
NM_000277.1:c.1316-26C= NP_000268.1:n.1316-26C=
XM_011538422.1:c.1259-26C= XP_011536724.1:n.1259-26C=
NM_000277.2:c.1316-26C= NP_000268.1:n.1316-26C=
NM_001354304.1:c.1316-26C= NP_001341233.1:n.1316-26C=
NM_000277.3:c.1316-26C= MANE Select NP_000268.1:n.1316-26C=
NM_001354304.2:c.1316-26C= NP_001341233.1:n.1316-26C=