Canonical Allele Identifier: CA2059446513
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852893A= , CM000674.2:g.102852893A= GRCh38
NC_000012.11:g.103246671A= , CM000674.1:g.103246671A= GRCh37
NC_000012.10:g.101770801A= NCBI36
NG_008690.1:g.69710T=
NG_008690.2:g.110518T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.764T= MANE Select ENSP00000448059.1:p.Leu255=
ENST00000307000.7:c.749T= ENSP00000303500.2:p.Leu250=
ENST00000549247.6:n.523T=
ENST00000553106.5:c.764T= ENSP00000448059.1:p.Leu255=
NM_000277.1:c.764T= NP_000268.1:p.Leu255=
XM_011538422.1:c.764T= XP_011536724.1:p.Leu255=
NM_000277.2:c.764T= NP_000268.1:p.Leu255=
NM_001354304.1:c.764T= NP_001341233.1:p.Leu255=
NM_000277.3:c.764T= MANE Select NP_000268.1:p.Leu255=
NM_001354304.2:c.764T= NP_001341233.1:p.Leu255=