Canonical Allele Identifier: CA2059441517
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840416C= , CM000674.2:g.102840416C= GRCh38
NC_000012.11:g.103234194C= , CM000674.1:g.103234194C= GRCh37
NC_000012.10:g.101758324C= NCBI36
NG_008690.1:g.82187G=
NG_008690.2:g.122995G=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1299G= MANE Select ENSP00000448059.1:p.Leu433=
ENST00000307000.7:c.1284G= ENSP00000303500.2:p.Leu428=
ENST00000551114.2:n.961G=
ENST00000553106.5:c.1299G= ENSP00000448059.1:p.Leu433=
ENST00000635477.1:c.403G=
ENST00000635528.1:n.814G=
NM_000277.1:c.1299G= NP_000268.1:p.Leu433=
XM_011538422.1:c.1242G= XP_011536724.1:p.Leu414=
NM_000277.2:c.1299G= NP_000268.1:p.Leu433=
NM_001354304.1:c.1299G= NP_001341233.1:p.Leu433=
NM_000277.3:c.1299G= MANE Select NP_000268.1:p.Leu433=
NM_001354304.2:c.1299G= NP_001341233.1:p.Leu433=
Search 100 bp 5'
Search 100 bp 3'