Canonical Allele Identifier: CA2059448300
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854549A= , CM000674.2:g.102854549A= GRCh38
NC_000012.11:g.103248327A= , CM000674.1:g.103248327A= GRCh37
NC_000012.10:g.101772457A= NCBI36
NG_008690.1:g.68054T=
NG_008690.2:g.108862T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+587T= MANE Select ENSP00000448059.1:n.706+587T=
ENST00000307000.7:c.691+587T= ENSP00000303500.2:n.691+587T=
ENST00000553106.5:c.706+587T= ENSP00000448059.1:n.706+587T=
NM_000277.1:c.706+587T= NP_000268.1:n.706+587T=
XM_011538422.1:c.706+587T= XP_011536724.1:n.706+587T=
NM_000277.2:c.706+587T= NP_000268.1:n.706+587T=
NM_001354304.1:c.706+587T= NP_001341233.1:n.706+587T=
XM_017019370.2:c.*236T= XP_016874859.1:n.*236T=
NM_000277.3:c.706+587T= MANE Select NP_000268.1:n.706+587T=
NM_001354304.2:c.706+587T= NP_001341233.1:n.706+587T=
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