Canonical Allele Identifier: CA2695217254
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866634_102866636delinsGTG , CM000674.2:g.102866634_102866636delinsGTG GRCh38
NC_000012.11:g.103260412_103260414delinsGTG , CM000674.1:g.103260412_103260414delinsGTG GRCh37
NC_000012.10:g.101784542_101784544delinsGTG NCBI36
NG_008690.1:g.55967_55969delinsCAC
NG_008690.2:g.96775_96777delinsCAC

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.469_471delinsCAC MANE Select ENSP00000448059.1:p.Arg157His
ENST00000307000.7:c.454_456delinsCAC ENSP00000303500.2:p.Arg152His
ENST00000549111.5:n.565_567delinsCAC
ENST00000551988.5:n.530+10826_530+10828delinsCAC
ENST00000553106.5:c.469_471delinsCAC ENSP00000448059.1:p.Arg157His
NM_000277.1:c.469_471delinsCAC NP_000268.1:p.Arg157His
XM_011538422.1:c.469_471delinsCAC XP_011536724.1:p.Arg157His
NM_000277.2:c.469_471delinsCAC NP_000268.1:p.Arg157His
NM_001354304.1:c.469_471delinsCAC NP_001341233.1:p.Arg157His
XM_017019370.2:c.469_471delinsCAC XP_016874859.1:p.Arg157His
NM_000277.3:c.469_471delinsCAC MANE Select NP_000268.1:p.Arg157His
NM_001354304.2:c.469_471delinsCAC NP_001341233.1:p.Arg157His
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