Canonical Allele Identifier: CA6748748
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1105507
ClinVar RCV Id: RCV001429891
dbSNP Id: rs766107583

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843774G>A , CM000674.2:g.102843774G>A GRCh38
NC_000012.11:g.103237552G>A , CM000674.1:g.103237552G>A GRCh37
NC_000012.10:g.101761682G>A NCBI36
NG_008690.1:g.78829C>T
NG_008690.2:g.119637C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1071C>T MANE Select ENSP00000448059.1:p.Cys357=
ENST00000307000.7:c.1056C>T ENSP00000303500.2:p.Cys352=
ENST00000549247.6:n.830C>T
ENST00000551114.2:n.733C>T
ENST00000553106.5:c.1071C>T ENSP00000448059.1:p.Cys357=
ENST00000635477.1:c.175C>T
ENST00000635528.1:n.586C>T
NM_000277.1:c.1071C>T NP_000268.1:p.Cys357=
XM_011538422.1:c.1014C>T XP_011536724.1:p.Cys338=
NM_000277.2:c.1071C>T NP_000268.1:p.Cys357=
NM_001354304.1:c.1071C>T NP_001341233.1:p.Cys357=
NM_000277.3:c.1071C>T MANE Select NP_000268.1:p.Cys357=
NM_001354304.2:c.1071C>T NP_001341233.1:p.Cys357=