Canonical Allele Identifier: CA2059441506
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840410A= , CM000674.2:g.102840410A= GRCh38
NC_000012.11:g.103234188A= , CM000674.1:g.103234188A= GRCh37
NC_000012.10:g.101758318A= NCBI36
NG_008690.1:g.82193T=
NG_008690.2:g.123001T=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1305T= MANE Select ENSP00000448059.1:p.Asp435=
ENST00000307000.7:c.1290T= ENSP00000303500.2:p.Asp430=
ENST00000551114.2:n.967T=
ENST00000553106.5:c.1305T= ENSP00000448059.1:p.Asp435=
ENST00000635477.1:n.409T=
ENST00000635528.1:n.820T=
NM_000277.1:c.1305T= NP_000268.1:p.Asp435=
XM_011538422.1:c.1248T= XP_011536724.1:p.Asp416=
NM_000277.2:c.1305T= NP_000268.1:p.Asp435=
NM_001354304.1:c.1305T= NP_001341233.1:p.Asp435=
NM_000277.3:c.1305T= MANE Select NP_000268.1:p.Asp435=
NM_001354304.2:c.1305T= NP_001341233.1:p.Asp435=