Canonical Allele Identifier: CA2059450840
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846418A= , CM000674.2:g.102846418A= GRCh38
NC_000012.11:g.103240196A= , CM000674.1:g.103240196A= GRCh37
NC_000012.10:g.101764326A= NCBI36
NG_008690.1:g.76185T=
NG_008690.2:g.116993T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+477T= MANE Select ENSP00000448059.1:n.969+477T=
ENST00000307000.7:c.954+477T= ENSP00000303500.2:n.954+477T=
ENST00000549247.6:n.728+477T=
ENST00000551114.2:n.631+477T=
ENST00000553106.5:c.969+477T= ENSP00000448059.1:n.969+477T=
ENST00000635477.1:c.74-1987T=
ENST00000635528.1:n.484+477T=
NM_000277.1:c.969+477T= NP_000268.1:n.969+477T=
XM_011538422.1:c.913-1987T= XP_011536724.1:n.913-1987T=
NM_000277.2:c.969+477T= NP_000268.1:n.969+477T=
NM_001354304.1:c.969+477T= NP_001341233.1:n.969+477T=
NM_000277.3:c.969+477T= MANE Select NP_000268.1:n.969+477T=
NM_001354304.2:c.969+477T= NP_001341233.1:n.969+477T=
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