Canonical Allele Identifier: CA2059476147
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917067T= , CM000674.2:g.102917067T= GRCh38
NC_000012.11:g.103310845T= , CM000674.1:g.103310845T= GRCh37
NC_000012.10:g.101834975T= NCBI36
NG_008690.1:g.5536A=
NG_008690.2:g.46344A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+4A= MANE Select ENSP00000448059.1:n.60+4A=
ENST00000307000.7:c.-88+4A= ENSP00000303500.2:n.-88+4A=
ENST00000546844.1:c.60+4A= ENSP00000446658.1:n.60+4A=
ENST00000547319.1:n.371+4A=
ENST00000549111.5:n.156+4A=
ENST00000550978.6:c.44+4A=
ENST00000551337.5:c.60+4A= ENSP00000447620.1:n.60+4A=
ENST00000551988.5:n.149+4A=
ENST00000553106.5:c.60+4A= ENSP00000448059.1:n.60+4A=
ENST00000635500.1:n.29-4169A=
NM_000277.1:c.60+4A= NP_000268.1:n.60+4A=
XM_011538422.1:c.60+4A= XP_011536724.1:n.60+4A=
NM_000277.2:c.60+4A= NP_000268.1:n.60+4A=
NM_001354304.1:c.60+4A= NP_001341233.1:n.60+4A=
XM_017019370.2:c.60+4A= XP_016874859.1:n.60+4A=
NM_000277.3:c.60+4A= MANE Select NP_000268.1:n.60+4A=
NM_001354304.2:c.60+4A= NP_001341233.1:n.60+4A=