Canonical Allele Identifier: CA16020991
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 932273
ClinVar RCV Id: RCV001200009
dbSNP Id: rs1874535712

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840410del , CM000674.2:g.102840410del GRCh38
NC_000012.11:g.103234188del , CM000674.1:g.103234188del GRCh37
NC_000012.10:g.101758318del NCBI36
NG_008690.1:g.82194del
NG_008690.2:g.123002del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1306del MANE Select ENSP00000448059.1:p.Ser436ProfsTer16
ENST00000307000.7:c.1291del ENSP00000303500.2:p.Ser431ProfsTer16
ENST00000551114.2:n.968del
ENST00000553106.5:c.1306del ENSP00000448059.1:p.Ser436ProfsTer16
ENST00000635477.1:n.410del
ENST00000635528.1:n.821del
NM_000277.1:c.1306del NP_000268.1:p.Ser436ProfsTer16
XM_011538422.1:c.1249del XP_011536724.1:p.Ser417ProfsTer16
NM_000277.2:c.1306del NP_000268.1:p.Ser436ProfsTer16
NM_001354304.1:c.1306del NP_001341233.1:p.Ser436ProfsTer16
NM_000277.3:c.1306del MANE Select NP_000268.1:p.Ser436ProfsTer16
NM_001354304.2:c.1306del NP_001341233.1:p.Ser436ProfsTer16