Canonical Allele Identifier: CA2059451186
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846855A= , CM000674.2:g.102846855A= GRCh38
NC_000012.11:g.103240633A= , CM000674.1:g.103240633A= GRCh37
NC_000012.10:g.101764763A= NCBI36
NG_008690.1:g.75748T=
NG_008690.2:g.116556T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+40T= MANE Select ENSP00000448059.1:n.969+40T=
ENST00000307000.7:c.954+40T= ENSP00000303500.2:n.954+40T=
ENST00000549247.6:n.728+40T=
ENST00000551114.2:n.631+40T=
ENST00000553106.5:c.969+40T= ENSP00000448059.1:n.969+40T=
ENST00000635477.1:c.74-2424T=
ENST00000635528.1:n.484+40T=
NM_000277.1:c.969+40T= NP_000268.1:n.969+40T=
XM_011538422.1:c.913-2424T= XP_011536724.1:n.913-2424T=
NM_000277.2:c.969+40T= NP_000268.1:n.969+40T=
NM_001354304.1:c.969+40T= NP_001341233.1:n.969+40T=
NM_000277.3:c.969+40T= MANE Select NP_000268.1:n.969+40T=
NM_001354304.2:c.969+40T= NP_001341233.1:n.969+40T=