Canonical Allele Identifier: CA16020933
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1065374
ClinVar RCV Id: RCV001375888
dbSNP Id: rs766107583

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1071C>A MANE Select ENSP00000448059.1:p.Cys357Ter
ENST00000307000.7:c.1056C>A ENSP00000303500.2:p.Cys352Ter
ENST00000549247.6:n.830C>A
ENST00000551114.2:n.733C>A
ENST00000553106.5:c.1071C>A ENSP00000448059.1:p.Cys357Ter
ENST00000635477.1:c.175C>A
ENST00000635528.1:n.586C>A
NM_000277.1:c.1071C>A NP_000268.1:p.Cys357Ter
XM_011538422.1:c.1014C>A XP_011536724.1:p.Cys338Ter
NM_000277.2:c.1071C>A NP_000268.1:p.Cys357Ter
NM_001354304.1:c.1071C>A NP_001341233.1:p.Cys357Ter
NM_000277.3:c.1071C>A MANE Select NP_000268.1:p.Cys357Ter
NM_001354304.2:c.1071C>A NP_001341233.1:p.Cys357Ter