Canonical Allele Identifier: CA2059476328
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917384G= , CM000674.2:g.102917384G= GRCh38
NC_000012.11:g.103311162G= , CM000674.1:g.103311162G= GRCh37
NC_000012.10:g.101835292G= NCBI36
NG_008690.1:g.5220C=
NG_008690.2:g.46027C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546708.5:n.493-159C=
ENST00000546844.1:c.-95-159C= ENSP00000446658.1:n.-95-159C=
ENST00000547319.1:n.217-159C=
ENST00000551337.5:c.-95-159C= ENSP00000447620.1:n.-95-159C=
ENST00000553106.5:c.-254C= ENSP00000448059.1:n.-254C=
ENST00000635500.1:n.29-4486C=
NM_000277.1:c.-253C= NP_000268.1:n.-253C=
NM_000277.2:c.-254C= NP_000268.1:n.-254C=
NM_001354304.1:c.-95-159C= NP_001341233.1:n.-95-159C=
NM_001354304.2:c.-95-159C= NP_001341233.1:n.-95-159C=