Canonical Allele Identifier: CA2059451208
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846875C= , CM000674.2:g.102846875C= GRCh38
NC_000012.11:g.103240653C= , CM000674.1:g.103240653C= GRCh37
NC_000012.10:g.101764783C= NCBI36
NG_008690.1:g.75728G=
NG_008690.2:g.116536G=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.969+20G= MANE Select ENSP00000448059.1:n.969+20G=
ENST00000307000.7:c.954+20G= ENSP00000303500.2:n.954+20G=
ENST00000549247.6:n.728+20G=
ENST00000551114.2:n.631+20G=
ENST00000553106.5:c.969+20G= ENSP00000448059.1:n.969+20G=
ENST00000635477.1:c.74-2444G=
ENST00000635528.1:n.484+20G=
NM_000277.1:c.969+20G= NP_000268.1:n.969+20G=
XM_011538422.1:c.913-2444G= XP_011536724.1:n.913-2444G=
NM_000277.2:c.969+20G= NP_000268.1:n.969+20G=
NM_001354304.1:c.969+20G= NP_001341233.1:n.969+20G=
NM_000277.3:c.969+20G= MANE Select NP_000268.1:n.969+20G=
NM_001354304.2:c.969+20G= NP_001341233.1:n.969+20G=