Canonical Allele Identifier: CA2059451554
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846982G= , CM000674.2:g.102846982G= GRCh38
NC_000012.11:g.103240760G= , CM000674.1:g.103240760G= GRCh37
NC_000012.10:g.101764890G= NCBI36
NG_008690.1:g.75621C=
NG_008690.2:g.116429C=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.913-31C= MANE Select ENSP00000448059.1:n.913-31C=
ENST00000307000.7:c.898-31C= ENSP00000303500.2:n.898-31C=
ENST00000549247.6:n.672-31C=
ENST00000551114.2:n.575-31C=
ENST00000553106.5:c.913-31C= ENSP00000448059.1:n.913-31C=
ENST00000635477.1:c.74-2551C=
ENST00000635528.1:n.397C=
NM_000277.1:c.913-31C= NP_000268.1:n.913-31C=
XM_011538422.1:c.913-2551C= XP_011536724.1:n.913-2551C=
NM_000277.2:c.913-31C= NP_000268.1:n.913-31C=
NM_001354304.1:c.913-31C= NP_001341233.1:n.913-31C=
NM_000277.3:c.913-31C= MANE Select NP_000268.1:n.913-31C=
NM_001354304.2:c.913-31C= NP_001341233.1:n.913-31C=