Canonical Allele Identifier: CA2059451361
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846923G= , CM000674.2:g.102846923G= GRCh38
NC_000012.11:g.103240701G= , CM000674.1:g.103240701G= GRCh37
NC_000012.10:g.101764831G= NCBI36
NG_008690.1:g.75680C=
NG_008690.2:g.116488C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.941C= MANE Select ENSP00000448059.1:p.Pro314=
ENST00000307000.7:c.926C= ENSP00000303500.2:p.Pro309=
ENST00000549247.6:n.700C=
ENST00000551114.2:n.603C=
ENST00000553106.5:c.941C= ENSP00000448059.1:p.Pro314=
ENST00000635477.1:c.74-2492C=
ENST00000635528.1:n.456C=
NM_000277.1:c.941C= NP_000268.1:p.Pro314=
XM_011538422.1:c.913-2492C= XP_011536724.1:n.913-2492C=
NM_000277.2:c.941C= NP_000268.1:p.Pro314=
NM_001354304.1:c.941C= NP_001341233.1:p.Pro314=
NM_000277.3:c.941C= MANE Select NP_000268.1:p.Pro314=
NM_001354304.2:c.941C= NP_001341233.1:p.Pro314=