Canonical Allele Identifier: CA386302494
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912842G>T , CM000674.2:g.102912842G>T GRCh38
NC_000012.11:g.103306620G>T , CM000674.1:g.103306620G>T GRCh37
NC_000012.10:g.101830750G>T NCBI36
NG_008690.1:g.9761C>A
NG_008690.2:g.50569C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.117C>A MANE Select ENSP00000448059.1:p.Phe39Leu
ENST00000307000.7:c.102C>A ENSP00000303500.2:p.Phe34Leu
ENST00000546844.1:c.117C>A ENSP00000446658.1:p.Phe39Leu
ENST00000548677.2:n.204C>A
ENST00000548928.1:n.39C>A
ENST00000549111.5:n.213C>A
ENST00000550978.6:c.101C>A
ENST00000551337.5:c.117C>A ENSP00000447620.1:p.Phe39Leu
ENST00000551988.5:n.206C>A
ENST00000553106.5:c.117C>A ENSP00000448059.1:p.Phe39Leu
ENST00000635500.1:n.85C>A
NM_000277.1:c.117C>A NP_000268.1:p.Phe39Leu
XM_011538422.1:c.117C>A XP_011536724.1:p.Phe39Leu
NM_000277.2:c.117C>A NP_000268.1:p.Phe39Leu
NM_001354304.1:c.117C>A NP_001341233.1:p.Phe39Leu
XM_017019370.2:c.117C>A XP_016874859.1:p.Phe39Leu
NM_000277.3:c.117C>A MANE Select NP_000268.1:p.Phe39Leu
NM_001354304.2:c.117C>A NP_001341233.1:p.Phe39Leu