Canonical Allele Identifier: CA2059456668
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875937026
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865944_102865949del , CM000674.2:g.102865944_102865949del GRCh38
NC_000012.11:g.103259722_103259727del , CM000674.1:g.103259722_103259727del GRCh37
NC_000012.10:g.101783852_101783857del NCBI36
NG_008690.1:g.56656_56661del
NG_008690.2:g.97464_97469del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+649_509+654del MANE Select ENSP00000448059.1:n.509+649_509+654del
ENST00000307000.7:c.494+649_494+654del ENSP00000303500.2:n.494+649_494+654del
ENST00000549111.5:n.605+649_605+654del
ENST00000551988.5:n.531-10615_531-10610del
ENST00000553106.5:c.509+649_509+654del ENSP00000448059.1:n.509+649_509+654del
NM_000277.1:c.509+649_509+654del NP_000268.1:n.509+649_509+654del
XM_011538422.1:c.509+649_509+654del XP_011536724.1:n.509+649_509+654del
NM_000277.2:c.509+649_509+654del NP_000268.1:n.509+649_509+654del
NM_001354304.1:c.509+649_509+654del NP_001341233.1:n.509+649_509+654del
XM_017019370.2:c.509+649_509+654del XP_016874859.1:n.509+649_509+654del
NM_000277.3:c.509+649_509+654del MANE Select NP_000268.1:n.509+649_509+654del
NM_001354304.2:c.509+649_509+654del NP_001341233.1:n.509+649_509+654del
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