Canonical Allele Identifier: CA2059456620
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875929808
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865815_102865817del , CM000674.2:g.102865815_102865817del GRCh38
NC_000012.11:g.103259593_103259595del , CM000674.1:g.103259593_103259595del GRCh37
NC_000012.10:g.101783723_101783725del NCBI36
NG_008690.1:g.56789_56791del
NG_008690.2:g.97597_97599del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+782_509+784del MANE Select ENSP00000448059.1:n.509+782_509+784del
ENST00000307000.7:c.494+782_494+784del ENSP00000303500.2:n.494+782_494+784del
ENST00000549111.5:n.605+782_605+784del
ENST00000551988.5:n.531-10482_531-10480del
ENST00000553106.5:c.509+782_509+784del ENSP00000448059.1:n.509+782_509+784del
NM_000277.1:c.509+782_509+784del NP_000268.1:n.509+782_509+784del
XM_011538422.1:c.509+782_509+784del XP_011536724.1:n.509+782_509+784del
NM_000277.2:c.509+782_509+784del NP_000268.1:n.509+782_509+784del
NM_001354304.1:c.509+782_509+784del NP_001341233.1:n.509+782_509+784del
XM_017019370.2:c.509+782_509+784del XP_016874859.1:n.509+782_509+784del
NM_000277.3:c.509+782_509+784del MANE Select NP_000268.1:n.509+782_509+784del
NM_001354304.2:c.509+782_509+784del NP_001341233.1:n.509+782_509+784del
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