Canonical Allele Identifier: CA2059466675
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894789G= , CM000674.2:g.102894789G= GRCh38
NC_000012.11:g.103288567G= , CM000674.1:g.103288567G= GRCh37
NC_000012.10:g.101812697G= NCBI36
NG_008690.1:g.27814C=
NG_008690.2:g.68622C=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.298C= MANE Select ENSP00000448059.1:p.His100=
ENST00000307000.7:c.283C= ENSP00000303500.2:p.His95=
ENST00000546844.1:c.298C= ENSP00000446658.1:p.His100=
ENST00000548928.1:n.220C=
ENST00000549111.5:n.394C=
ENST00000550978.6:c.282C=
ENST00000551337.5:c.298C= ENSP00000447620.1:p.His100=
ENST00000551988.5:n.387C=
ENST00000553106.5:c.298C= ENSP00000448059.1:p.His100=
NM_000277.1:c.298C= NP_000268.1:p.His100=
XM_011538422.1:c.298C= XP_011536724.1:p.His100=
NM_000277.2:c.298C= NP_000268.1:p.His100=
NM_001354304.1:c.298C= NP_001341233.1:p.His100=
XM_017019370.2:c.298C= XP_016874859.1:p.His100=
NM_000277.3:c.298C= MANE Select NP_000268.1:p.His100=
NM_001354304.2:c.298C= NP_001341233.1:p.His100=
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