Canonical Allele Identifier: CA242485070
Community Standard Title: NM_000277.3(PAH):c.509+343A>G
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866253T>C , CM000674.2:g.102866253T>C GRCh38
NC_000012.11:g.103260031T>C , CM000674.1:g.103260031T>C GRCh37
NC_000012.10:g.101784161T>C NCBI36
NG_008690.1:g.56350A>G
NG_008690.2:g.97158A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+343A>G MANE Select NP_000268.1:n.509+343A>G
ENST00000553106.6:c.509+343A>G MANE Select ENSP00000448059.1:n.509+343A>G
NM_000277.1:c.509+343A>G NP_000268.1:n.509+343A>G
NM_000277.2:c.509+343A>G NP_000268.1:n.509+343A>G
NM_001354304.1:c.509+343A>G NP_001341233.1:n.509+343A>G
NM_001354304.2:c.509+343A>G NP_001341233.1:n.509+343A>G
ENST00000307000.7:c.494+343A>G ENSP00000303500.2:n.494+343A>G
ENST00000549111.5:n.605+343A>G
ENST00000551988.5:n.531-10921A>G
ENST00000553106.5:c.509+343A>G ENSP00000448059.1:n.509+343A>G
XM_011538422.1:c.509+343A>G XP_011536724.1:n.509+343A>G
XM_017019370.2:c.509+343A>G XP_016874859.1:n.509+343A>G
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