Canonical Allele Identifier: CA229590
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102708
ClinVar RCV Id: RCV000088956
dbSNP Id: rs62514911
MyVariant Identifiers: chr12:g.103260373del (hg19) chr12:g.102866595del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866595del , CM000674.2:g.102866595del GRCh38
NC_000012.11:g.103260373del , CM000674.1:g.103260373del GRCh37
NC_000012.10:g.101784503del NCBI36
NG_008690.1:g.56008del
NG_008690.2:g.96816del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.509+1del MANE Select ENSP00000448059.1:n.509+1del
ENST00000307000.7:c.494+1del ENSP00000303500.2:n.494+1del
ENST00000549111.5:n.605+1del
ENST00000551988.5:n.530+10867del
ENST00000553106.5:c.509+1del ENSP00000448059.1:n.509+1del
NM_000277.1:c.509+1del NP_000268.1:n.509+1del
XM_011538422.1:c.509+1del XP_011536724.1:n.509+1del
NM_000277.2:c.509+1del NP_000268.1:n.509+1del
NM_001354304.1:c.509+1del NP_001341233.1:n.509+1del
XM_017019370.2:c.509+1del XP_016874859.1:n.509+1del
NM_000277.3:c.509+1del MANE Select NP_000268.1:n.509+1del
NM_001354304.2:c.509+1del NP_001341233.1:n.509+1del
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