Canonical Allele Identifier: CA2059456613
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865787G= , CM000674.2:g.102865787G= GRCh38
NC_000012.11:g.103259565G= , CM000674.1:g.103259565G= GRCh37
NC_000012.10:g.101783695G= NCBI36
NG_008690.1:g.56816C=
NG_008690.2:g.97624C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+809C= MANE Select ENSP00000448059.1:n.509+809C=
ENST00000307000.7:c.494+809C= ENSP00000303500.2:n.494+809C=
ENST00000549111.5:n.605+809C=
ENST00000551988.5:n.531-10455C=
ENST00000553106.5:c.509+809C= ENSP00000448059.1:n.509+809C=
NM_000277.1:c.509+809C= NP_000268.1:n.509+809C=
XM_011538422.1:c.509+809C= XP_011536724.1:n.509+809C=
NM_000277.2:c.509+809C= NP_000268.1:n.509+809C=
NM_001354304.1:c.509+809C= NP_001341233.1:n.509+809C=
XM_017019370.2:c.509+809C= XP_016874859.1:n.509+809C=
NM_000277.3:c.509+809C= MANE Select NP_000268.1:n.509+809C=
NM_001354304.2:c.509+809C= NP_001341233.1:n.509+809C=
Search 100 bp 5'
Search 100 bp 3'