Canonical Allele Identifier: CA229592
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102710
ClinVar RCV Id: RCV000088958
dbSNP Id: rs62517175
MyVariant Identifiers: chr12:g.103260369del (hg19) chr12:g.102866591del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866591del , CM000674.2:g.102866591del GRCh38
NC_000012.11:g.103260369del , CM000674.1:g.103260369del GRCh37
NC_000012.10:g.101784499del NCBI36
NG_008690.1:g.56012del
NG_008690.2:g.96820del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.509+5del MANE Select ENSP00000448059.1:n.509+5del
ENST00000307000.7:c.494+5del ENSP00000303500.2:n.494+5del
ENST00000549111.5:n.605+5del
ENST00000551988.5:n.530+10871del
ENST00000553106.5:c.509+5del ENSP00000448059.1:n.509+5del
NM_000277.1:c.509+5del NP_000268.1:n.509+5del
XM_011538422.1:c.509+5del XP_011536724.1:n.509+5del
NM_000277.2:c.509+5del NP_000268.1:n.509+5del
NM_001354304.1:c.509+5del NP_001341233.1:n.509+5del
XM_017019370.2:c.509+5del XP_016874859.1:n.509+5del
NM_000277.3:c.509+5del MANE Select NP_000268.1:n.509+5del
NM_001354304.2:c.509+5del NP_001341233.1:n.509+5del
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