Canonical Allele Identifier: CA2059451346
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846921C= , CM000674.2:g.102846921C= GRCh38
NC_000012.11:g.103240699C= , CM000674.1:g.103240699C= GRCh37
NC_000012.10:g.101764829C= NCBI36
NG_008690.1:g.75682G=
NG_008690.2:g.116490G=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.943G= MANE Select ENSP00000448059.1:p.Asp315=
ENST00000307000.7:c.928G= ENSP00000303500.2:p.Asp310=
ENST00000549247.6:n.702G=
ENST00000551114.2:n.605G=
ENST00000553106.5:c.943G= ENSP00000448059.1:p.Asp315=
ENST00000635477.1:c.74-2490G=
ENST00000635528.1:n.458G=
NM_000277.1:c.943G= NP_000268.1:p.Asp315=
XM_011538422.1:c.913-2490G= XP_011536724.1:n.913-2490G=
NM_000277.2:c.943G= NP_000268.1:p.Asp315=
NM_001354304.1:c.943G= NP_001341233.1:p.Asp315=
NM_000277.3:c.943G= MANE Select NP_000268.1:p.Asp315=
NM_001354304.2:c.943G= NP_001341233.1:p.Asp315=
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