Canonical Allele Identifier: CA3197747047
Community Standard Title: NM_000277.3(PAH):c.913G= (p.Glu305=)
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846951C= , CM000674.2:g.102846951C= GRCh38
NC_000012.11:g.103240729C= , CM000674.1:g.103240729C= GRCh37
NC_000012.10:g.101764859C= NCBI36
NG_008690.1:g.75652G=
NG_008690.2:g.116460G=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.913G= MANE Select NP_000268.1:p.Glu305=
ENST00000553106.6:c.913G= MANE Select ENSP00000448059.1:p.Glu305=
NM_000277.1:c.913G= NP_000268.1:p.Glu305=
NM_000277.2:c.913G= NP_000268.1:p.Glu305=
NM_001354304.1:c.913G= NP_001341233.1:p.Glu305=
NM_001354304.2:c.913G= NP_001341233.1:p.Glu305=
ENST00000307000.7:c.898G= ENSP00000303500.2:p.Glu300=
ENST00000549247.6:n.672G=
ENST00000551114.2:n.575G=
ENST00000553106.5:c.913G= ENSP00000448059.1:p.Glu305=
ENST00000635477.1:c.74-2520G=
ENST00000635528.1:n.428G=
XM_011538422.1:c.913-2520G= XP_011536724.1:n.913-2520G=
Search 100 bp 5'
Search 100 bp 3'