Canonical Allele Identifier: CA2059446414
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843672_102843674delinsACT , CM000674.2:g.102843672_102843674delinsACT GRCh38
NC_000012.11:g.103237450_103237452delinsACT , CM000674.1:g.103237450_103237452delinsACT GRCh37
NC_000012.10:g.101761580_101761582delinsACT NCBI36
NG_008690.1:g.78929_78931delinsAGT
NG_008690.2:g.119737_119739delinsAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1171_1173delinsAGT MANE Select ENSP00000448059.1:p.Ser391=
ENST00000307000.7:c.1156_1158delinsAGT ENSP00000303500.2:p.Ser386=
ENST00000549247.6:n.930_932delinsAGT
ENST00000551114.2:n.833_835delinsAGT
ENST00000553106.5:c.1171_1173delinsAGT ENSP00000448059.1:p.Ser391=
ENST00000635477.1:c.275_277delinsAGT
ENST00000635528.1:n.686_688delinsAGT
NM_000277.1:c.1171_1173delinsAGT NP_000268.1:p.Ser391=
XM_011538422.1:c.1114_1116delinsAGT XP_011536724.1:p.Ser372=
NM_000277.2:c.1171_1173delinsAGT NP_000268.1:p.Ser391=
NM_001354304.1:c.1171_1173delinsAGT NP_001341233.1:p.Ser391=
NM_000277.3:c.1171_1173delinsAGT MANE Select NP_000268.1:p.Ser391=
NM_001354304.2:c.1171_1173delinsAGT NP_001341233.1:p.Ser391=
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