Canonical Allele Identifier: CA2059476181
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917123G= , CM000674.2:g.102917123G= GRCh38
NC_000012.11:g.103310901G= , CM000674.1:g.103310901G= GRCh37
NC_000012.10:g.101835031G= NCBI36
NG_008690.1:g.5480C=
NG_008690.2:g.46288C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.8C= MANE Select ENSP00000448059.1:p.Thr3=
ENST00000307000.7:c.-140C= ENSP00000303500.2:n.-140C=
ENST00000546844.1:c.8C= ENSP00000446658.1:p.Thr3=
ENST00000547319.1:n.319C=
ENST00000549111.5:n.104C=
ENST00000551337.5:c.8C= ENSP00000447620.1:p.Thr3=
ENST00000551988.5:n.97C=
ENST00000553106.5:c.8C= ENSP00000448059.1:p.Thr3=
ENST00000635500.1:n.29-4225C=
NM_000277.1:c.8C= NP_000268.1:p.Thr3=
XM_011538422.1:c.8C= XP_011536724.1:p.Thr3=
NM_000277.2:c.8C= NP_000268.1:p.Thr3=
NM_001354304.1:c.8C= NP_001341233.1:p.Thr3=
XM_017019370.2:c.8C= XP_016874859.1:p.Thr3=
NM_000277.3:c.8C= MANE Select NP_000268.1:p.Thr3=
NM_001354304.2:c.8C= NP_001341233.1:p.Thr3=