Canonical Allele Identifier: CA2059450887
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846487C= , CM000674.2:g.102846487C= GRCh38
NC_000012.11:g.103240265C= , CM000674.1:g.103240265C= GRCh37
NC_000012.10:g.101764395C= NCBI36
NG_008690.1:g.76116G=
NG_008690.2:g.116924G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+408G= MANE Select ENSP00000448059.1:n.969+408G=
ENST00000307000.7:c.954+408G= ENSP00000303500.2:n.954+408G=
ENST00000549247.6:n.728+408G=
ENST00000551114.2:n.631+408G=
ENST00000553106.5:c.969+408G= ENSP00000448059.1:n.969+408G=
ENST00000635477.1:c.74-2056G=
ENST00000635528.1:n.484+408G=
NM_000277.1:c.969+408G= NP_000268.1:n.969+408G=
XM_011538422.1:c.913-2056G= XP_011536724.1:n.913-2056G=
NM_000277.2:c.969+408G= NP_000268.1:n.969+408G=
NM_001354304.1:c.969+408G= NP_001341233.1:n.969+408G=
NM_000277.3:c.969+408G= MANE Select NP_000268.1:n.969+408G=
NM_001354304.2:c.969+408G= NP_001341233.1:n.969+408G=
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