Canonical Allele Identifier: CA2059446091
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843523A= , CM000674.2:g.102843523A= GRCh38
NC_000012.11:g.103237301A= , CM000674.1:g.103237301A= GRCh37
NC_000012.10:g.101761431A= NCBI36
NG_008690.1:g.79080T=
NG_008690.2:g.119888T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1199+123T= MANE Select ENSP00000448059.1:n.1199+123T=
ENST00000307000.7:c.1184+123T= ENSP00000303500.2:n.1184+123T=
ENST00000549247.6:n.958+123T=
ENST00000551114.2:n.861+123T=
ENST00000553106.5:c.1199+123T= ENSP00000448059.1:n.1199+123T=
ENST00000635477.1:c.303+123T=
ENST00000635528.1:n.714+123T=
NM_000277.1:c.1199+123T= NP_000268.1:n.1199+123T=
XM_011538422.1:c.1142+123T= XP_011536724.1:n.1142+123T=
NM_000277.2:c.1199+123T= NP_000268.1:n.1199+123T=
NM_001354304.1:c.1199+123T= NP_001341233.1:n.1199+123T=
NM_000277.3:c.1199+123T= MANE Select NP_000268.1:n.1199+123T=
NM_001354304.2:c.1199+123T= NP_001341233.1:n.1199+123T=