Canonical Allele Identifier: CA2059456996
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866634_102866635delinsTC , CM000674.2:g.102866634_102866635delinsTC GRCh38
NC_000012.11:g.103260412_103260413delinsTC , CM000674.1:g.103260412_103260413delinsTC GRCh37
NC_000012.10:g.101784542_101784543delinsTC NCBI36
NG_008690.1:g.55968_55969delinsGA
NG_008690.2:g.96776_96777delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.470_471delinsGA MANE Select ENSP00000448059.1:p.Arg157=
ENST00000307000.7:c.455_456delinsGA ENSP00000303500.2:p.Arg152=
ENST00000549111.5:n.566_567delinsGA
ENST00000551988.5:n.530+10827_530+10828delinsGA
ENST00000553106.5:c.470_471delinsGA ENSP00000448059.1:p.Arg157=
NM_000277.1:c.470_471delinsGA NP_000268.1:p.Arg157=
XM_011538422.1:c.470_471delinsGA XP_011536724.1:p.Arg157=
NM_000277.2:c.470_471delinsGA NP_000268.1:p.Arg157=
NM_001354304.1:c.470_471delinsGA NP_001341233.1:p.Arg157=
XM_017019370.2:c.470_471delinsGA XP_016874859.1:p.Arg157=
NM_000277.3:c.470_471delinsGA MANE Select NP_000268.1:p.Arg157=
NM_001354304.2:c.470_471delinsGA NP_001341233.1:p.Arg157=
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