Canonical Allele Identifier: CA2059441198
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840276G= , CM000674.2:g.102840276G= GRCh38
NC_000012.11:g.103234054G= , CM000674.1:g.103234054G= GRCh37
NC_000012.10:g.101758184G= NCBI36
NG_008690.1:g.82327C=
NG_008690.2:g.123135C=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+124C= MANE Select ENSP00000448059.1:n.1315+124C=
ENST00000307000.7:c.1300+124C= ENSP00000303500.2:n.1300+124C=
ENST00000551114.2:n.977+124C=
ENST00000553106.5:c.1315+124C= ENSP00000448059.1:n.1315+124C=
ENST00000635477.1:c.419+124C=
ENST00000635528.1:n.830+124C=
NM_000277.1:c.1315+124C= NP_000268.1:n.1315+124C=
XM_011538422.1:c.1258+124C= XP_011536724.1:n.1258+124C=
NM_000277.2:c.1315+124C= NP_000268.1:n.1315+124C=
NM_001354304.1:c.1315+124C= NP_001341233.1:n.1315+124C=
NM_000277.3:c.1315+124C= MANE Select NP_000268.1:n.1315+124C=
NM_001354304.2:c.1315+124C= NP_001341233.1:n.1315+124C=