Canonical Allele Identifier: CA2059473312
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912802G= , CM000674.2:g.102912802G= GRCh38
NC_000012.11:g.103306580G= , CM000674.1:g.103306580G= GRCh37
NC_000012.10:g.101830710G= NCBI36
NG_008690.1:g.9801C=
NG_008690.2:g.50609C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.157C= MANE Select ENSP00000448059.1:p.Arg53=
ENST00000307000.7:c.142C= ENSP00000303500.2:p.Arg48=
ENST00000546844.1:c.157C= ENSP00000446658.1:p.Arg53=
ENST00000548677.2:n.244C=
ENST00000548928.1:n.79C=
ENST00000549111.5:n.253C=
ENST00000550978.6:c.141C=
ENST00000551337.5:c.157C= ENSP00000447620.1:p.Arg53=
ENST00000551988.5:n.246C=
ENST00000553106.5:c.157C= ENSP00000448059.1:p.Arg53=
ENST00000635500.1:n.125C=
NM_000277.1:c.157C= NP_000268.1:p.Arg53=
XM_011538422.1:c.157C= XP_011536724.1:p.Arg53=
NM_000277.2:c.157C= NP_000268.1:p.Arg53=
NM_001354304.1:c.157C= NP_001341233.1:p.Arg53=
XM_017019370.2:c.157C= XP_016874859.1:p.Arg53=
NM_000277.3:c.157C= MANE Select NP_000268.1:p.Arg53=
NM_001354304.2:c.157C= NP_001341233.1:p.Arg53=