Canonical Allele Identifier: CA2059451332
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846912T= , CM000674.2:g.102846912T= GRCh38
NC_000012.11:g.103240690T= , CM000674.1:g.103240690T= GRCh37
NC_000012.10:g.101764820T= NCBI36
NG_008690.1:g.75691A=
NG_008690.2:g.116499A=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.952A= MANE Select ENSP00000448059.1:p.Ile318=
ENST00000307000.7:c.937A= ENSP00000303500.2:p.Ile313=
ENST00000549247.6:n.711A=
ENST00000551114.2:n.614A=
ENST00000553106.5:c.952A= ENSP00000448059.1:p.Ile318=
ENST00000635477.1:c.74-2481A=
ENST00000635528.1:n.467A=
NM_000277.1:c.952A= NP_000268.1:p.Ile318=
XM_011538422.1:c.913-2481A= XP_011536724.1:n.913-2481A=
NM_000277.2:c.952A= NP_000268.1:p.Ile318=
NM_001354304.1:c.952A= NP_001341233.1:p.Ile318=
NM_000277.3:c.952A= MANE Select NP_000268.1:p.Ile318=
NM_001354304.2:c.952A= NP_001341233.1:p.Ile318=