Canonical Allele Identifier: CA3197744032
Community Standard Title: NM_000277.3(PAH):c.1199+136T=
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843510A= , CM000674.2:g.102843510A= GRCh38
NC_000012.11:g.103237288A= , CM000674.1:g.103237288A= GRCh37
NC_000012.10:g.101761418A= NCBI36
NG_008690.1:g.79093T=
NG_008690.2:g.119901T=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1199+136T= MANE Select NP_000268.1:n.1199+136T=
ENST00000553106.6:c.1199+136T= MANE Select ENSP00000448059.1:n.1199+136T=
NM_000277.1:c.1199+136T= NP_000268.1:n.1199+136T=
NM_000277.2:c.1199+136T= NP_000268.1:n.1199+136T=
NM_001354304.1:c.1199+136T= NP_001341233.1:n.1199+136T=
NM_001354304.2:c.1199+136T= NP_001341233.1:n.1199+136T=
ENST00000307000.7:c.1184+136T= ENSP00000303500.2:n.1184+136T=
ENST00000549247.6:n.958+136T=
ENST00000551114.2:n.861+136T=
ENST00000553106.5:c.1199+136T= ENSP00000448059.1:n.1199+136T=
ENST00000635477.1:c.303+136T=
ENST00000635528.1:n.714+136T=
XM_011538422.1:c.1142+136T= XP_011536724.1:n.1142+136T=
Search 100 bp 5'
Search 100 bp 3'