Canonical Allele Identifier: CA2059451388
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846927C= , CM000674.2:g.102846927C= GRCh38
NC_000012.11:g.103240705C= , CM000674.1:g.103240705C= GRCh37
NC_000012.10:g.101764835C= NCBI36
NG_008690.1:g.75676G=
NG_008690.2:g.116484G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.937G= MANE Select ENSP00000448059.1:p.Ala313=
ENST00000307000.7:c.922G= ENSP00000303500.2:p.Ala308=
ENST00000549247.6:n.696G=
ENST00000551114.2:n.599G=
ENST00000553106.5:c.937G= ENSP00000448059.1:p.Ala313=
ENST00000635477.1:c.74-2496G=
ENST00000635528.1:n.452G=
NM_000277.1:c.937G= NP_000268.1:p.Ala313=
XM_011538422.1:c.913-2496G= XP_011536724.1:n.913-2496G=
NM_000277.2:c.937G= NP_000268.1:p.Ala313=
NM_001354304.1:c.937G= NP_001341233.1:p.Ala313=
NM_000277.3:c.937G= MANE Select NP_000268.1:p.Ala313=
NM_001354304.2:c.937G= NP_001341233.1:p.Ala313=