Canonical Allele Identifier: CA2059446790
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852962A= , CM000674.2:g.102852962A= GRCh38
NC_000012.11:g.103246740A= , CM000674.1:g.103246740A= GRCh37
NC_000012.10:g.101770870A= NCBI36
NG_008690.1:g.69641T=
NG_008690.2:g.110449T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.707-12T= MANE Select ENSP00000448059.1:n.707-12T=
ENST00000307000.7:c.692-12T= ENSP00000303500.2:n.692-12T=
ENST00000549247.6:n.454T=
ENST00000553106.5:c.707-12T= ENSP00000448059.1:n.707-12T=
NM_000277.1:c.707-12T= NP_000268.1:n.707-12T=
XM_011538422.1:c.707-12T= XP_011536724.1:n.707-12T=
NM_000277.2:c.707-12T= NP_000268.1:n.707-12T=
NM_001354304.1:c.707-12T= NP_001341233.1:n.707-12T=
NM_000277.3:c.707-12T= MANE Select NP_000268.1:n.707-12T=
NM_001354304.2:c.707-12T= NP_001341233.1:n.707-12T=