Canonical Allele Identifier: CA229639
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102747
dbSNP Id: rs63749676

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855228_102855249del , CM000674.2:g.102855228_102855249del GRCh38
NC_000012.11:g.103249006_103249027del , CM000674.1:g.103249006_103249027del GRCh37
NC_000012.10:g.101773136_101773157del NCBI36
NG_008690.1:g.67354_67375del
NG_008690.2:g.108162_108183del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.593_614del MANE Select ENSP00000448059.1:p.Tyr198CysfsTer?
ENST00000307000.7:c.578_599del ENSP00000303500.2:p.Tyr193CysfsTer?
ENST00000549111.5:n.689_710del
ENST00000553106.5:c.593_614del ENSP00000448059.1:p.Tyr198CysfsTer?
NM_000277.1:c.593_614del NP_000268.1:p.Tyr198CysfsTer?
XM_011538422.1:c.593_614del XP_011536724.1:p.Tyr198CysfsTer?
NM_000277.2:c.593_614del NP_000268.1:p.Tyr198CysfsTer?
NM_001354304.1:c.593_614del NP_001341233.1:p.Tyr198CysfsTer?
XM_017019370.2:c.593_614del XP_016874859.1:p.Tyr198CysfsTer?
NM_000277.3:c.593_614del MANE Select NP_000268.1:p.Tyr198CysfsTer?
NM_001354304.2:c.593_614del NP_001341233.1:p.Tyr198CysfsTer?