Canonical Allele Identifier: CA2059446353
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843660G= , CM000674.2:g.102843660G= GRCh38
NC_000012.11:g.103237438G= , CM000674.1:g.103237438G= GRCh37
NC_000012.10:g.101761568G= NCBI36
NG_008690.1:g.78943C=
NG_008690.2:g.119751C=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1185C= MANE Select ENSP00000448059.1:p.Ala395=
ENST00000307000.7:c.1170C= ENSP00000303500.2:p.Ala390=
ENST00000549247.6:n.944C=
ENST00000551114.2:n.847C=
ENST00000553106.5:c.1185C= ENSP00000448059.1:p.Ala395=
ENST00000635477.1:c.289C=
ENST00000635528.1:n.700C=
NM_000277.1:c.1185C= NP_000268.1:p.Ala395=
XM_011538422.1:c.1128C= XP_011536724.1:p.Ala376=
NM_000277.2:c.1185C= NP_000268.1:p.Ala395=
NM_001354304.1:c.1185C= NP_001341233.1:p.Ala395=
NM_000277.3:c.1185C= MANE Select NP_000268.1:p.Ala395=
NM_001354304.2:c.1185C= NP_001341233.1:p.Ala395=
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