Canonical Allele Identifier: CA229311
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102498
dbSNP Id: rs62516094

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844347del , CM000674.2:g.102844347del GRCh38
NC_000012.11:g.103238125del , CM000674.1:g.103238125del GRCh37
NC_000012.10:g.101762255del NCBI36
NG_008690.1:g.78257del
NG_008690.2:g.119065del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1055del MANE Select ENSP00000448059.1:p.Gly352ValfsTer?
ENST00000307000.7:c.1040del ENSP00000303500.2:p.Gly347ValfsTer?
ENST00000549247.6:n.814del
ENST00000551114.2:n.717del
ENST00000553106.5:c.1055del ENSP00000448059.1:p.Gly352ValfsTer?
ENST00000635477.1:n.159del
ENST00000635528.1:n.570del
NM_000277.1:c.1055del NP_000268.1:p.Gly352ValfsTer?
XM_011538422.1:c.998del XP_011536724.1:p.Gly333ValfsTer?
NM_000277.2:c.1055del NP_000268.1:p.Gly352ValfsTer?
NM_001354304.1:c.1055del NP_001341233.1:p.Gly352ValfsTer?
NM_000277.3:c.1055del MANE Select NP_000268.1:p.Gly352ValfsTer?
NM_001354304.2:c.1055del NP_001341233.1:p.Gly352ValfsTer?