Canonical Allele Identifier: CA2620527006
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866594dup , CM000674.2:g.102866594dup GRCh38
NC_000012.11:g.103260372dup , CM000674.1:g.103260372dup GRCh37
NC_000012.10:g.101784502dup NCBI36
NG_008690.1:g.56009dup
NG_008690.2:g.96817dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+2dup MANE Select ENSP00000448059.1:n.509+2dup
ENST00000307000.7:c.494+2dup ENSP00000303500.2:n.494+2dup
ENST00000549111.5:n.605+2dup
ENST00000551988.5:n.530+10868dup
ENST00000553106.5:c.509+2dup ENSP00000448059.1:n.509+2dup
NM_000277.1:c.509+2dup NP_000268.1:n.509+2dup
XM_011538422.1:c.509+2dup XP_011536724.1:n.509+2dup
NM_000277.2:c.509+2dup NP_000268.1:n.509+2dup
NM_001354304.1:c.509+2dup NP_001341233.1:n.509+2dup
XM_017019370.2:c.509+2dup XP_016874859.1:n.509+2dup
NM_000277.3:c.509+2dup MANE Select NP_000268.1:n.509+2dup
NM_001354304.2:c.509+2dup NP_001341233.1:n.509+2dup
Search 100 bp 5'
Search 100 bp 3'