Canonical Allele Identifier: CA3192160285
Community Standard Title: NM_000277.3(PAH):c.509+497A=
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866099T= , CM000674.2:g.102866099T= GRCh38
NC_000012.11:g.103259877T= , CM000674.1:g.103259877T= GRCh37
NC_000012.10:g.101784007T= NCBI36
NG_008690.1:g.56504A=
NG_008690.2:g.97312A=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+497A= MANE Select NP_000268.1:n.509+497A=
ENST00000553106.6:c.509+497A= MANE Select ENSP00000448059.1:n.509+497A=
NM_000277.1:c.509+497A= NP_000268.1:n.509+497A=
NM_000277.2:c.509+497A= NP_000268.1:n.509+497A=
NM_001354304.1:c.509+497A= NP_001341233.1:n.509+497A=
NM_001354304.2:c.509+497A= NP_001341233.1:n.509+497A=
ENST00000307000.7:c.494+497A= ENSP00000303500.2:n.494+497A=
ENST00000549111.5:n.605+497A=
ENST00000551988.5:n.531-10767A=
ENST00000553106.5:c.509+497A= ENSP00000448059.1:n.509+497A=
XM_011538422.1:c.509+497A= XP_011536724.1:n.509+497A=
XM_017019370.2:c.509+497A= XP_016874859.1:n.509+497A=
Search 100 bp 5'
Search 100 bp 3'