Canonical Allele Identifier: CA2059441462
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840403T= , CM000674.2:g.102840403T= GRCh38
NC_000012.11:g.103234181T= , CM000674.1:g.103234181T= GRCh37
NC_000012.10:g.101758311T= NCBI36
NG_008690.1:g.82200A=
NG_008690.2:g.123008A=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1312A= MANE Select ENSP00000448059.1:p.Asn438=
ENST00000307000.7:c.1297A= ENSP00000303500.2:p.Asn433=
ENST00000551114.2:n.974A=
ENST00000553106.5:c.1312A= ENSP00000448059.1:p.Asn438=
ENST00000635477.1:n.416A=
ENST00000635528.1:n.827A=
NM_000277.1:c.1312A= NP_000268.1:p.Asn438=
XM_011538422.1:c.1255A= XP_011536724.1:p.Asn419=
NM_000277.2:c.1312A= NP_000268.1:p.Asn438=
NM_001354304.1:c.1312A= NP_001341233.1:p.Asn438=
NM_000277.3:c.1312A= MANE Select NP_000268.1:p.Asn438=
NM_001354304.2:c.1312A= NP_001341233.1:p.Asn438=