Canonical Allele Identifier: CA229717
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102806
ClinVar RCV Id: RCV000089057 RCV000169560
dbSNP Id: rs199475657
MyVariant Identifiers: chr12:g.103246713del (hg19) chr12:g.102852935del (hg38)
ERepo: CA229717/MONDO:0009861/006
PubMed: PMID:12905706 PMID:16256386 PMID:25456745
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852935del , CM000674.2:g.102852935del GRCh38
NC_000012.11:g.103246713del , CM000674.1:g.103246713del GRCh37
NC_000012.10:g.101770843del NCBI36
NG_008690.1:g.69668del
NG_008690.2:g.110476del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.722del MANE Select ENSP00000448059.1:p.Arg241ProfsTer?
ENST00000307000.7:c.707del ENSP00000303500.2:p.Arg236ProfsTer?
ENST00000549247.6:n.481del
ENST00000553106.5:c.722del ENSP00000448059.1:p.Arg241ProfsTer?
NM_000277.1:c.722del NP_000268.1:p.Arg241ProfsTer?
XM_011538422.1:c.722del XP_011536724.1:p.Arg241ProfsTer?
NM_000277.2:c.722del NP_000268.1:p.Arg241ProfsTer?
NM_001354304.1:c.722del NP_001341233.1:p.Arg241ProfsTer?
NM_000277.3:c.722del MANE Select NP_000268.1:p.Arg241ProfsTer?
NM_001354304.2:c.722del NP_001341233.1:p.Arg241ProfsTer?
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Search 100 bp 3'