Canonical Allele Identifier: CA2059456629
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875931394
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865826del , CM000674.2:g.102865826del GRCh38
NC_000012.11:g.103259604del , CM000674.1:g.103259604del GRCh37
NC_000012.10:g.101783734del NCBI36
NG_008690.1:g.56779del
NG_008690.2:g.97587del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+772del MANE Select ENSP00000448059.1:n.509+772del
ENST00000307000.7:c.494+772del ENSP00000303500.2:n.494+772del
ENST00000549111.5:n.605+772del
ENST00000551988.5:n.531-10492del
ENST00000553106.5:c.509+772del ENSP00000448059.1:n.509+772del
NM_000277.1:c.509+772del NP_000268.1:n.509+772del
XM_011538422.1:c.509+772del XP_011536724.1:n.509+772del
NM_000277.2:c.509+772del NP_000268.1:n.509+772del
NM_001354304.1:c.509+772del NP_001341233.1:n.509+772del
XM_017019370.2:c.509+772del XP_016874859.1:n.509+772del
NM_000277.3:c.509+772del MANE Select NP_000268.1:n.509+772del
NM_001354304.2:c.509+772del NP_001341233.1:n.509+772del
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