Canonical Allele Identifier: CA2726968957
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs2136662313
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865948_102865949dup , CM000674.2:g.102865948_102865949dup GRCh38
NC_000012.11:g.103259726_103259727dup , CM000674.1:g.103259726_103259727dup GRCh37
NC_000012.10:g.101783856_101783857dup NCBI36
NG_008690.1:g.56654_56655dup
NG_008690.2:g.97462_97463dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+647_509+648dup MANE Select ENSP00000448059.1:n.509+647_509+648dup
ENST00000307000.7:c.494+647_494+648dup ENSP00000303500.2:n.494+647_494+648dup
ENST00000549111.5:n.605+647_605+648dup
ENST00000551988.5:n.531-10617_531-10616dup
ENST00000553106.5:c.509+647_509+648dup ENSP00000448059.1:n.509+647_509+648dup
NM_000277.1:c.509+647_509+648dup NP_000268.1:n.509+647_509+648dup
XM_011538422.1:c.509+647_509+648dup XP_011536724.1:n.509+647_509+648dup
NM_000277.2:c.509+647_509+648dup NP_000268.1:n.509+647_509+648dup
NM_001354304.1:c.509+647_509+648dup NP_001341233.1:n.509+647_509+648dup
XM_017019370.2:c.509+647_509+648dup XP_016874859.1:n.509+647_509+648dup
NM_000277.3:c.509+647_509+648dup MANE Select NP_000268.1:n.509+647_509+648dup
NM_001354304.2:c.509+647_509+648dup NP_001341233.1:n.509+647_509+648dup
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