Canonical Allele Identifier: CA6748700
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1594041
ClinVar RCV Id: RCV002115249
dbSNP Id: rs770034263

Genomic Alleles

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

Transcript Alleles

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