Canonical Allele Identifier: CA2059462412
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877413G= , CM000674.2:g.102877413G= GRCh38
NC_000012.11:g.103271191G= , CM000674.1:g.103271191G= GRCh37
NC_000012.10:g.101795321G= NCBI36
NG_008690.1:g.45190C=
NG_008690.2:g.85998C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.441+49C= MANE Select ENSP00000448059.1:n.441+49C=
ENST00000307000.7:c.426+49C= ENSP00000303500.2:n.426+49C=
ENST00000549111.5:n.537+49C=
ENST00000550978.6:c.474C=
ENST00000551988.5:n.530+49C=
ENST00000553106.5:c.441+49C= ENSP00000448059.1:n.441+49C=
NM_000277.1:c.441+49C= NP_000268.1:n.441+49C=
XM_011538422.1:c.441+49C= XP_011536724.1:n.441+49C=
NM_000277.2:c.441+49C= NP_000268.1:n.441+49C=
NM_001354304.1:c.441+49C= NP_001341233.1:n.441+49C=
XM_017019370.2:c.441+49C= XP_016874859.1:n.441+49C=
NM_000277.3:c.441+49C= MANE Select NP_000268.1:n.441+49C=
NM_001354304.2:c.441+49C= NP_001341233.1:n.441+49C=
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