Canonical Allele Identifier: CA2059451327
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846911A= , CM000674.2:g.102846911A= GRCh38
NC_000012.11:g.103240689A= , CM000674.1:g.103240689A= GRCh37
NC_000012.10:g.101764819A= NCBI36
NG_008690.1:g.75692T=
NG_008690.2:g.116500T=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.953T= MANE Select ENSP00000448059.1:p.Ile318=
ENST00000307000.7:c.938T= ENSP00000303500.2:p.Ile313=
ENST00000549247.6:n.712T=
ENST00000551114.2:n.615T=
ENST00000553106.5:c.953T= ENSP00000448059.1:p.Ile318=
ENST00000635477.1:n.74-2480T=
ENST00000635528.1:n.468T=
NM_000277.1:c.953T= NP_000268.1:p.Ile318=
XM_011538422.1:c.913-2480T= XP_011536724.1:n.913-2480T=
NM_000277.2:c.953T= NP_000268.1:p.Ile318=
NM_001354304.1:c.953T= NP_001341233.1:p.Ile318=
NM_000277.3:c.953T= MANE Select NP_000268.1:p.Ile318=
NM_001354304.2:c.953T= NP_001341233.1:p.Ile318=