Canonical Allele Identifier: CA2843248125
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852892dup , CM000674.2:g.102852892dup GRCh38
NC_000012.11:g.103246670dup , CM000674.1:g.103246670dup GRCh37
NC_000012.10:g.101770800dup NCBI36
NG_008690.1:g.69713dup
NG_008690.2:g.110521dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.767dup MANE Select ENSP00000448059.1:p.Gly257TrpfsTer26
ENST00000307000.7:c.752dup ENSP00000303500.2:p.Gly252TrpfsTer26
ENST00000549247.6:n.526dup
ENST00000553106.5:c.767dup ENSP00000448059.1:p.Gly257TrpfsTer26
NM_000277.1:c.767dup NP_000268.1:p.Gly257TrpfsTer26
XM_011538422.1:c.767dup XP_011536724.1:p.Gly257TrpfsTer26
NM_000277.2:c.767dup NP_000268.1:p.Gly257TrpfsTer26
NM_001354304.1:c.767dup NP_001341233.1:p.Gly257TrpfsTer26
NM_000277.3:c.767dup MANE Select NP_000268.1:p.Gly257TrpfsTer26
NM_001354304.2:c.767dup NP_001341233.1:p.Gly257TrpfsTer26
Search 100 bp 5'
Search 100 bp 3'