Canonical Allele Identifier: CA2059448829
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844564T= , CM000674.2:g.102844564T= GRCh38
NC_000012.11:g.103238342T= , CM000674.1:g.103238342T= GRCh37
NC_000012.10:g.101762472T= NCBI36
NG_008690.1:g.78039A=
NG_008690.2:g.118847A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.970-133A= MANE Select ENSP00000448059.1:n.970-133A=
ENST00000307000.7:c.955-133A= ENSP00000303500.2:n.955-133A=
ENST00000549247.6:n.729-133A=
ENST00000551114.2:n.632-133A=
ENST00000553106.5:c.970-133A= ENSP00000448059.1:n.970-133A=
ENST00000635477.1:c.74-133A=
ENST00000635528.1:n.485-133A=
NM_000277.1:c.970-133A= NP_000268.1:n.970-133A=
XM_011538422.1:c.913-133A= XP_011536724.1:n.913-133A=
NM_000277.2:c.970-133A= NP_000268.1:n.970-133A=
NM_001354304.1:c.970-133A= NP_001341233.1:n.970-133A=
NM_000277.3:c.970-133A= MANE Select NP_000268.1:n.970-133A=
NM_001354304.2:c.970-133A= NP_001341233.1:n.970-133A=
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