Canonical Allele Identifier: CA2059446548
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843695_102843696delinsGC , CM000674.2:g.102843695_102843696delinsGC GRCh38
NC_000012.11:g.103237473_103237474delinsGC , CM000674.1:g.103237473_103237474delinsGC GRCh37
NC_000012.10:g.101761603_101761604delinsGC NCBI36
NG_008690.1:g.78907_78908delinsGC
NG_008690.2:g.119715_119716delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1149_1150delinsGC MANE Select ENSP00000448059.1:p.Gln383=
ENST00000307000.7:c.1134_1135delinsGC ENSP00000303500.2:p.Gln378=
ENST00000549247.6:n.908_909delinsGC
ENST00000551114.2:n.811_812delinsGC
ENST00000553106.5:c.1149_1150delinsGC ENSP00000448059.1:p.Gln383=
ENST00000635477.1:c.253_254delinsGC
ENST00000635528.1:n.664_665delinsGC
NM_000277.1:c.1149_1150delinsGC NP_000268.1:p.Gln383=
XM_011538422.1:c.1092_1093delinsGC XP_011536724.1:p.Gln364=
NM_000277.2:c.1149_1150delinsGC NP_000268.1:p.Gln383=
NM_001354304.1:c.1149_1150delinsGC NP_001341233.1:p.Gln383=
NM_000277.3:c.1149_1150delinsGC MANE Select NP_000268.1:p.Gln383=
NM_001354304.2:c.1149_1150delinsGC NP_001341233.1:p.Gln383=
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