Canonical Allele Identifier: CA682813577
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1217568072
MyVariant Identifiers: chr12:g.103259721_103259722del (hg19) chr12:g.102865943_102865944del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865945_102865946del , CM000674.2:g.102865945_102865946del GRCh38
NC_000012.11:g.103259723_103259724del , CM000674.1:g.103259723_103259724del GRCh37
NC_000012.10:g.101783853_101783854del NCBI36
NG_008690.1:g.56659_56660del
NG_008690.2:g.97467_97468del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+652_509+653del MANE Select ENSP00000448059.1:n.509+652_509+653del
ENST00000307000.7:c.494+652_494+653del ENSP00000303500.2:n.494+652_494+653del
ENST00000549111.5:n.605+652_605+653del
ENST00000551988.5:n.531-10612_531-10611del
ENST00000553106.5:c.509+652_509+653del ENSP00000448059.1:n.509+652_509+653del
NM_000277.1:c.509+652_509+653del NP_000268.1:n.509+652_509+653del
XM_011538422.1:c.509+652_509+653del XP_011536724.1:n.509+652_509+653del
NM_000277.2:c.509+652_509+653del NP_000268.1:n.509+652_509+653del
NM_001354304.1:c.509+652_509+653del NP_001341233.1:n.509+652_509+653del
XM_017019370.2:c.509+652_509+653del XP_016874859.1:n.509+652_509+653del
NM_000277.3:c.509+652_509+653del MANE Select NP_000268.1:n.509+652_509+653del
NM_001354304.2:c.509+652_509+653del NP_001341233.1:n.509+652_509+653del
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