Canonical Allele Identifier: CA229531
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102663
ClinVar RCV Id: RCV000088910 RCV000531628
dbSNP Id: rs199475605
MyVariant Identifiers: chr12:g.103271280_103271283del (hg19) chr12:g.102877502_102877505del (hg38)
ERepo: CA229531/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877504_102877507del , CM000674.2:g.102877504_102877507del GRCh38
NC_000012.11:g.103271282_103271285del , CM000674.1:g.103271282_103271285del GRCh37
NC_000012.10:g.101795412_101795415del NCBI36
NG_008690.1:g.45098_45101del
NG_008690.2:g.85906_85909del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.398_401del MANE Select ENSP00000448059.1:p.Asn133ArgfsTer?
ENST00000307000.7:c.383_386del ENSP00000303500.2:p.Asn128ArgfsTer?
ENST00000549111.5:n.494_497del
ENST00000550978.6:c.382_385del
ENST00000551337.5:c.398_401del ENSP00000447620.1:p.Asn133ArgfsTer?
ENST00000551988.5:n.487_490del
ENST00000553106.5:c.398_401del ENSP00000448059.1:p.Asn133ArgfsTer?
NM_000277.1:c.398_401del NP_000268.1:p.Asn133ArgfsTer?
XM_011538422.1:c.398_401del XP_011536724.1:p.Asn133ArgfsTer?
NM_000277.2:c.398_401del NP_000268.1:p.Asn133ArgfsTer?
NM_001354304.1:c.398_401del NP_001341233.1:p.Asn133ArgfsTer?
XM_017019370.2:c.398_401del XP_016874859.1:p.Asn133ArgfsTer?
NM_000277.3:c.398_401del MANE Select NP_000268.1:p.Asn133ArgfsTer?
NM_001354304.2:c.398_401del NP_001341233.1:p.Asn133ArgfsTer?
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