Canonical Allele Identifier: CA386291623
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103240695T>C (hg19) chr12:g.102846917T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846917T>C , CM000674.2:g.102846917T>C GRCh38
NC_000012.11:g.103240695T>C , CM000674.1:g.103240695T>C GRCh37
NC_000012.10:g.101764825T>C NCBI36
NG_008690.1:g.75686A>G
NG_008690.2:g.116494A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.947A>G MANE Select ENSP00000448059.1:p.Glu316Gly
ENST00000307000.7:c.932A>G ENSP00000303500.2:p.Glu311Gly
ENST00000549247.6:n.706A>G
ENST00000551114.2:n.609A>G
ENST00000553106.5:c.947A>G ENSP00000448059.1:p.Glu316Gly
ENST00000635477.1:c.74-2486A>G
ENST00000635528.1:n.462A>G
NM_000277.1:c.947A>G NP_000268.1:p.Glu316Gly
XM_011538422.1:c.913-2486A>G XP_011536724.1:n.913-2486A>G
NM_000277.2:c.947A>G NP_000268.1:p.Glu316Gly
NM_001354304.1:c.947A>G NP_001341233.1:p.Glu316Gly
NM_000277.3:c.947A>G MANE Select NP_000268.1:p.Glu316Gly
NM_001354304.2:c.947A>G NP_001341233.1:p.Glu316Gly
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