Canonical Allele Identifier: CA220585
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 588
dbSNP Id: rs5030846
COSMIC: COSM79010

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852930G>A , CM000674.2:g.102852930G>A GRCh38
NC_000012.11:g.103246708G>A , CM000674.1:g.103246708G>A GRCh37
NC_000012.10:g.101770838G>A NCBI36
NG_008690.1:g.69673C>T
NG_008690.2:g.110481C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.727C>T MANE Select ENSP00000448059.1:p.Arg243Ter
ENST00000307000.7:c.712C>T ENSP00000303500.2:p.Arg238Ter
ENST00000549247.6:n.486C>T
ENST00000553106.5:c.727C>T ENSP00000448059.1:p.Arg243Ter
NM_000277.1:c.727C>T NP_000268.1:p.Arg243Ter
XM_011538422.1:c.727C>T XP_011536724.1:p.Arg243Ter
NM_000277.2:c.727C>T NP_000268.1:p.Arg243Ter
NM_001354304.1:c.727C>T NP_001341233.1:p.Arg243Ter
NM_000277.3:c.727C>T MANE Select NP_000268.1:p.Arg243Ter
NM_001354304.2:c.727C>T NP_001341233.1:p.Arg243Ter