Canonical Allele Identifier: CA229440
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102597
ClinVar RCV Id: RCV000088837 RCV000993607
dbSNP Id: rs199475591
MyVariant Identifiers: chr12:g.103306600del (hg19) chr12:g.102912822del (hg38)
ERepo: CA229440/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912823del , CM000674.2:g.102912823del GRCh38
NC_000012.11:g.103306601del , CM000674.1:g.103306601del GRCh37
NC_000012.10:g.101830731del NCBI36
NG_008690.1:g.9781del
NG_008690.2:g.50589del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.137del MANE Select ENSP00000448059.1:p.Gly46ValfsTer15
ENST00000307000.7:c.122del ENSP00000303500.2:p.Gly41ValfsTer15
ENST00000546844.1:c.137del ENSP00000446658.1:p.Gly46ValfsTer15
ENST00000548677.2:n.224del
ENST00000548928.1:n.59del
ENST00000549111.5:n.233del
ENST00000550978.6:c.121del
ENST00000551337.5:c.137del ENSP00000447620.1:p.Gly46ValfsTer15
ENST00000551988.5:n.226del
ENST00000553106.5:c.137del ENSP00000448059.1:p.Gly46ValfsTer15
ENST00000635500.1:n.105del
NM_000277.1:c.137del NP_000268.1:p.Gly46ValfsTer15
XM_011538422.1:c.137del XP_011536724.1:p.Gly46ValfsTer15
NM_000277.2:c.137del NP_000268.1:p.Gly46ValfsTer15
NM_001354304.1:c.137del NP_001341233.1:p.Gly46ValfsTer15
XM_017019370.2:c.137del XP_016874859.1:p.Gly46ValfsTer15
NM_000277.3:c.137del MANE Select NP_000268.1:p.Gly46ValfsTer15
NM_001354304.2:c.137del NP_001341233.1:p.Gly46ValfsTer15
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