Canonical Allele Identifier: CA2059451300
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846901G= , CM000674.2:g.102846901G= GRCh38
NC_000012.11:g.103240679G= , CM000674.1:g.103240679G= GRCh37
NC_000012.10:g.101764809G= NCBI36
NG_008690.1:g.75702C=
NG_008690.2:g.116510C=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.963C= MANE Select ENSP00000448059.1:p.Leu321=
ENST00000307000.7:c.948C= ENSP00000303500.2:p.Leu316=
ENST00000549247.6:n.722C=
ENST00000551114.2:n.625C=
ENST00000553106.5:c.963C= ENSP00000448059.1:p.Leu321=
ENST00000635477.1:n.74-2470C=
ENST00000635528.1:n.478C=
NM_000277.1:c.963C= NP_000268.1:p.Leu321=
XM_011538422.1:c.913-2470C= XP_011536724.1:n.913-2470C=
NM_000277.2:c.963C= NP_000268.1:p.Leu321=
NM_001354304.1:c.963C= NP_001341233.1:p.Leu321=
NM_000277.3:c.963C= MANE Select NP_000268.1:p.Leu321=
NM_001354304.2:c.963C= NP_001341233.1:p.Leu321=