Canonical Allele Identifier: CA2059446850
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102853006C= , CM000674.2:g.102853006C= GRCh38
NC_000012.11:g.103246784C= , CM000674.1:g.103246784C= GRCh37
NC_000012.10:g.101770914C= NCBI36
NG_008690.1:g.69597G=
NG_008690.2:g.110405G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.707-56G= MANE Select ENSP00000448059.1:n.707-56G=
ENST00000307000.7:c.692-56G= ENSP00000303500.2:n.692-56G=
ENST00000549247.6:n.410G=
ENST00000553106.5:c.707-56G= ENSP00000448059.1:n.707-56G=
NM_000277.1:c.707-56G= NP_000268.1:n.707-56G=
XM_011538422.1:c.707-56G= XP_011536724.1:n.707-56G=
NM_000277.2:c.707-56G= NP_000268.1:n.707-56G=
NM_001354304.1:c.707-56G= NP_001341233.1:n.707-56G=
NM_000277.3:c.707-56G= MANE Select NP_000268.1:n.707-56G=
NM_001354304.2:c.707-56G= NP_001341233.1:n.707-56G=
Search 100 bp 5'
Search 100 bp 3'