Canonical Allele Identifier: CA2059449878
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855326C= , CM000674.2:g.102855326C= GRCh38
NC_000012.11:g.103249104C= , CM000674.1:g.103249104C= GRCh37
NC_000012.10:g.101773234C= NCBI36
NG_008690.1:g.67277G=
NG_008690.2:g.108085G=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.516G= MANE Select ENSP00000448059.1:p.Gln172=
ENST00000307000.7:c.501G= ENSP00000303500.2:p.Gln167=
ENST00000549111.5:n.612G=
ENST00000551988.5:n.537G=
ENST00000553106.5:c.516G= ENSP00000448059.1:p.Gln172=
NM_000277.1:c.516G= NP_000268.1:p.Gln172=
XM_011538422.1:c.516G= XP_011536724.1:p.Gln172=
NM_000277.2:c.516G= NP_000268.1:p.Gln172=
NM_001354304.1:c.516G= NP_001341233.1:p.Gln172=
XM_017019370.2:c.516G= XP_016874859.1:p.Gln172=
NM_000277.3:c.516G= MANE Select NP_000268.1:p.Gln172=
NM_001354304.2:c.516G= NP_001341233.1:p.Gln172=
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