Canonical Allele Identifier: CA2695217226
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843739_102843742dup , CM000674.2:g.102843739_102843742dup GRCh38
NC_000012.11:g.103237517_103237520dup , CM000674.1:g.103237517_103237520dup GRCh37
NC_000012.10:g.101761647_101761650dup NCBI36
NG_008690.1:g.78861_78864dup
NG_008690.2:g.119669_119672dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1103_1106dup MANE Select ENSP00000448059.1:p.Glu370AlafsTer25
ENST00000307000.7:c.1088_1091dup ENSP00000303500.2:p.Glu365AlafsTer25
ENST00000549247.6:n.862_865dup
ENST00000551114.2:n.765_768dup
ENST00000553106.5:c.1103_1106dup ENSP00000448059.1:p.Glu370AlafsTer25
ENST00000635477.1:c.207_210dup
ENST00000635528.1:n.618_621dup
NM_000277.1:c.1103_1106dup NP_000268.1:p.Glu370AlafsTer25
XM_011538422.1:c.1046_1049dup XP_011536724.1:p.Glu351AlafsTer25
NM_000277.2:c.1103_1106dup NP_000268.1:p.Glu370AlafsTer25
NM_001354304.1:c.1103_1106dup NP_001341233.1:p.Glu370AlafsTer25
NM_000277.3:c.1103_1106dup MANE Select NP_000268.1:p.Glu370AlafsTer25
NM_001354304.2:c.1103_1106dup NP_001341233.1:p.Glu370AlafsTer25
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