Canonical Allele Identifier: CA2979028073
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846803dup , CM000674.2:g.102846803dup GRCh38
NC_000012.11:g.103240581dup , CM000674.1:g.103240581dup GRCh37
NC_000012.10:g.101764711dup NCBI36
NG_008690.1:g.75801dup
NG_008690.2:g.116609dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+93dup MANE Select ENSP00000448059.1:n.969+93dup
ENST00000307000.7:c.954+93dup ENSP00000303500.2:n.954+93dup
ENST00000549247.6:n.728+93dup
ENST00000551114.2:n.631+93dup
ENST00000553106.5:c.969+93dup ENSP00000448059.1:n.969+93dup
ENST00000635477.1:c.74-2371dup
ENST00000635528.1:n.484+93dup
NM_000277.1:c.969+93dup NP_000268.1:n.969+93dup
XM_011538422.1:c.913-2371dup XP_011536724.1:n.913-2371dup
NM_000277.2:c.969+93dup NP_000268.1:n.969+93dup
NM_001354304.1:c.969+93dup NP_001341233.1:n.969+93dup
NM_000277.3:c.969+93dup MANE Select NP_000268.1:n.969+93dup
NM_001354304.2:c.969+93dup NP_001341233.1:n.969+93dup
Search 100 bp 5'
Search 100 bp 3'