Canonical Allele Identifier: CA2059441346
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840380G= , CM000674.2:g.102840380G= GRCh38
NC_000012.11:g.103234158G= , CM000674.1:g.103234158G= GRCh37
NC_000012.10:g.101758288G= NCBI36
NG_008690.1:g.82223C=
NG_008690.2:g.123031C=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+20C= MANE Select ENSP00000448059.1:n.1315+20C=
ENST00000307000.7:c.1300+20C= ENSP00000303500.2:n.1300+20C=
ENST00000551114.2:n.977+20C=
ENST00000553106.5:c.1315+20C= ENSP00000448059.1:n.1315+20C=
ENST00000635477.1:c.419+20C=
ENST00000635528.1:n.830+20C=
NM_000277.1:c.1315+20C= NP_000268.1:n.1315+20C=
XM_011538422.1:c.1258+20C= XP_011536724.1:n.1258+20C=
NM_000277.2:c.1315+20C= NP_000268.1:n.1315+20C=
NM_001354304.1:c.1315+20C= NP_001341233.1:n.1315+20C=
NM_000277.3:c.1315+20C= MANE Select NP_000268.1:n.1315+20C=
NM_001354304.2:c.1315+20C= NP_001341233.1:n.1315+20C=
Search 100 bp 5'
Search 100 bp 3'