Canonical Allele Identifier: CA2059450360
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894329G= , CM000674.2:g.102894329G= GRCh38
NC_000012.11:g.103288107G= , CM000674.1:g.103288107G= GRCh37
NC_000012.10:g.101812237G= NCBI36
NG_008690.1:g.28274C=
NG_008690.2:g.69082C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.352+406C= MANE Select ENSP00000448059.1:n.352+406C=
ENST00000307000.7:c.337+406C= ENSP00000303500.2:n.337+406C=
ENST00000548928.1:n.274+406C=
ENST00000549111.5:n.448+406C=
ENST00000550978.6:c.336+406C=
ENST00000551337.5:c.352+406C= ENSP00000447620.1:n.352+406C=
ENST00000551988.5:n.441+406C=
ENST00000553106.5:c.352+406C= ENSP00000448059.1:n.352+406C=
NM_000277.1:c.352+406C= NP_000268.1:n.352+406C=
XM_011538422.1:c.352+406C= XP_011536724.1:n.352+406C=
NM_000277.2:c.352+406C= NP_000268.1:n.352+406C=
NM_001354304.1:c.352+406C= NP_001341233.1:n.352+406C=
XM_017019370.2:c.352+406C= XP_016874859.1:n.352+406C=
NM_000277.3:c.352+406C= MANE Select NP_000268.1:n.352+406C=
NM_001354304.2:c.352+406C= NP_001341233.1:n.352+406C=
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