Canonical Allele Identifier: CA229311
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102498
ClinVar RCV Id: RCV000088729 RCV000267428
dbSNP Id: rs62516094
ExAC: 12:103238123 AC / A
gnomAD v3: 12-102844345-AC-A
gnomAD v4: 12-102844345-AC-A
MyVariant Identifiers: chr12:g.103238124del (hg19) chr12:g.102844346del (hg38)
PubMed: PMID:7545869 PMID:7913581 PMID:8069318 PMID:9781015 PMID:19292873 PMID:19786003 PMID:21228398 PMID:23891399 PMID:24939588 PMID:26666653
ERepo: CA229311/MONDO:0009861/006
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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:c.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?
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