Canonical Allele Identifier: CA229477
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102621
ClinVar RCV Id: RCV000088863 RCV001269036
dbSNP Id: rs672601294
MyVariant Identifiers: chr12:g.103288675del (hg19) chr12:g.102894897del (hg38)
ERepo: CA229477/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894899del , CM000674.2:g.102894899del GRCh38
NC_000012.11:g.103288677del , CM000674.1:g.103288677del GRCh37
NC_000012.10:g.101812807del NCBI36
NG_008690.1:g.27706del
NG_008690.2:g.68514del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.190del MANE Select ENSP00000448059.1:p.His64ThrfsTer9
ENST00000307000.7:c.175del ENSP00000303500.2:p.His59ThrfsTer9
ENST00000546844.1:c.190del ENSP00000446658.1:p.His64ThrfsTer9
ENST00000548677.2:n.277del
ENST00000548928.1:n.112del
ENST00000549111.5:n.286del
ENST00000550978.6:c.174del
ENST00000551337.5:c.190del ENSP00000447620.1:p.His64ThrfsTer9
ENST00000551988.5:n.279del
ENST00000553106.5:c.190del ENSP00000448059.1:p.His64ThrfsTer9
ENST00000635500.1:n.158del
NM_000277.1:c.190del NP_000268.1:p.His64ThrfsTer9
XM_011538422.1:c.190del XP_011536724.1:p.His64ThrfsTer9
NM_000277.2:c.190del NP_000268.1:p.His64ThrfsTer9
NM_001354304.1:c.190del NP_001341233.1:p.His64ThrfsTer9
XM_017019370.2:c.190del XP_016874859.1:p.His64ThrfsTer9
NM_000277.3:c.190del MANE Select NP_000268.1:p.His64ThrfsTer9
NM_001354304.2:c.190del NP_001341233.1:p.His64ThrfsTer9
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