Canonical Allele Identifier: CA919161285
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1592960908
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865955_102865969del , CM000674.2:g.102865955_102865969del GRCh38
NC_000012.11:g.103259733_103259747del , CM000674.1:g.103259733_103259747del GRCh37
NC_000012.10:g.101783863_101783877del NCBI36
NG_008690.1:g.56638_56652del
NG_008690.2:g.97446_97460del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+631_509+645del MANE Select ENSP00000448059.1:n.509+631_509+645del
ENST00000307000.7:c.494+631_494+645del ENSP00000303500.2:n.494+631_494+645del
ENST00000549111.5:n.605+631_605+645del
ENST00000551988.5:n.531-10633_531-10619del
ENST00000553106.5:c.509+631_509+645del ENSP00000448059.1:n.509+631_509+645del
NM_000277.1:c.509+631_509+645del NP_000268.1:n.509+631_509+645del
XM_011538422.1:c.509+631_509+645del XP_011536724.1:n.509+631_509+645del
NM_000277.2:c.509+631_509+645del NP_000268.1:n.509+631_509+645del
NM_001354304.1:c.509+631_509+645del NP_001341233.1:n.509+631_509+645del
XM_017019370.2:c.509+631_509+645del XP_016874859.1:n.509+631_509+645del
NM_000277.3:c.509+631_509+645del MANE Select NP_000268.1:n.509+631_509+645del
NM_001354304.2:c.509+631_509+645del NP_001341233.1:n.509+631_509+645del
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