Canonical Allele Identifier: CA2979027077
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866553dup , CM000674.2:g.102866553dup GRCh38
NC_000012.11:g.103260331dup , CM000674.1:g.103260331dup GRCh37
NC_000012.10:g.101784461dup NCBI36
NG_008690.1:g.56053dup
NG_008690.2:g.96861dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+46dup MANE Select ENSP00000448059.1:n.509+46dup
ENST00000307000.7:c.494+46dup ENSP00000303500.2:n.494+46dup
ENST00000549111.5:n.605+46dup
ENST00000551988.5:n.530+10912dup
ENST00000553106.5:c.509+46dup ENSP00000448059.1:n.509+46dup
NM_000277.1:c.509+46dup NP_000268.1:n.509+46dup
XM_011538422.1:c.509+46dup XP_011536724.1:n.509+46dup
NM_000277.2:c.509+46dup NP_000268.1:n.509+46dup
NM_001354304.1:c.509+46dup NP_001341233.1:n.509+46dup
XM_017019370.2:c.509+46dup XP_016874859.1:n.509+46dup
NM_000277.3:c.509+46dup MANE Select NP_000268.1:n.509+46dup
NM_001354304.2:c.509+46dup NP_001341233.1:n.509+46dup
Search 100 bp 5'
Search 100 bp 3'