Canonical Allele Identifier: CA2059446486
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852887C= , CM000674.2:g.102852887C= GRCh38
NC_000012.11:g.103246665C= , CM000674.1:g.103246665C= GRCh37
NC_000012.10:g.101770795C= NCBI36
NG_008690.1:g.69716G=
NG_008690.2:g.110524G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.770G= MANE Select ENSP00000448059.1:p.Gly257=
ENST00000307000.7:c.755G= ENSP00000303500.2:p.Gly252=
ENST00000549247.6:n.529G=
ENST00000553106.5:c.770G= ENSP00000448059.1:p.Gly257=
NM_000277.1:c.770G= NP_000268.1:p.Gly257=
XM_011538422.1:c.770G= XP_011536724.1:p.Gly257=
NM_000277.2:c.770G= NP_000268.1:p.Gly257=
NM_001354304.1:c.770G= NP_001341233.1:p.Gly257=
NM_000277.3:c.770G= MANE Select NP_000268.1:p.Gly257=
NM_001354304.2:c.770G= NP_001341233.1:p.Gly257=