Canonical Allele Identifier: CA2059448027
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844345_102844346delinsAC , CM000674.2:g.102844345_102844346delinsAC GRCh38
NC_000012.11:g.103238123_103238124delinsAC , CM000674.1:g.103238123_103238124delinsAC GRCh37
NC_000012.10:g.101762253_101762254delinsAC NCBI36
NG_008690.1:g.78257_78258delinsGT
NG_008690.2:g.119065_119066delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1055_1056delinsGT MANE Select ENSP00000448059.1:p.Gly352=
ENST00000307000.7:c.1040_1041delinsGT ENSP00000303500.2:p.Gly347=
ENST00000549247.6:n.814_815delinsGT
ENST00000551114.2:n.717_718delinsGT
ENST00000553106.5:c.1055_1056delinsGT ENSP00000448059.1:p.Gly352=
ENST00000635477.1:c.159_160delinsGT
ENST00000635528.1:n.570_571delinsGT
NM_000277.1:c.1055_1056delinsGT NP_000268.1:p.Gly352=
XM_011538422.1:c.998_999delinsGT XP_011536724.1:p.Gly333=
NM_000277.2:c.1055_1056delinsGT NP_000268.1:p.Gly352=
NM_001354304.1:c.1055_1056delinsGT NP_001341233.1:p.Gly352=
NM_000277.3:c.1055_1056delinsGT MANE Select NP_000268.1:p.Gly352=
NM_001354304.2:c.1055_1056delinsGT NP_001341233.1:p.Gly352=
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