Canonical Allele Identifier: CA2843248100
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846919dup , CM000674.2:g.102846919dup GRCh38
NC_000012.11:g.103240697dup , CM000674.1:g.103240697dup GRCh37
NC_000012.10:g.101764827dup NCBI36
NG_008690.1:g.75684dup
NG_008690.2:g.116492dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.945dup MANE Select ENSP00000448059.1:p.Glu316Ter
ENST00000307000.7:c.930dup ENSP00000303500.2:p.Glu311Ter
ENST00000549247.6:n.704dup
ENST00000551114.2:n.607dup
ENST00000553106.5:c.945dup ENSP00000448059.1:p.Glu316Ter
ENST00000635477.1:c.74-2488dup
ENST00000635528.1:n.460dup
NM_000277.1:c.945dup NP_000268.1:p.Glu316Ter
XM_011538422.1:c.913-2488dup XP_011536724.1:n.913-2488dup
NM_000277.2:c.945dup NP_000268.1:p.Glu316Ter
NM_001354304.1:c.945dup NP_001341233.1:p.Glu316Ter
NM_000277.3:c.945dup MANE Select NP_000268.1:p.Glu316Ter
NM_001354304.2:c.945dup NP_001341233.1:p.Glu316Ter
Search 100 bp 5'
Search 100 bp 3'