Canonical Allele Identifier: CA386291625
Gene: PAH HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.947A>C MANE Select ENSP00000448059.1:p.Glu316Ala
ENST00000307000.7:c.932A>C ENSP00000303500.2:p.Glu311Ala
ENST00000549247.6:n.706A>C
ENST00000551114.2:n.609A>C
ENST00000553106.5:c.947A>C ENSP00000448059.1:p.Glu316Ala
ENST00000635477.1:c.74-2486A>C
ENST00000635528.1:n.462A>C
NM_000277.1:c.947A>C NP_000268.1:p.Glu316Ala
XM_011538422.1:c.913-2486A>C XP_011536724.1:n.913-2486A>C
NM_000277.2:c.947A>C NP_000268.1:p.Glu316Ala
NM_001354304.1:c.947A>C NP_001341233.1:p.Glu316Ala
NM_000277.3:c.947A>C MANE Select NP_000268.1:p.Glu316Ala
NM_001354304.2:c.947A>C NP_001341233.1:p.Glu316Ala
Search 100 bp 5'
Search 100 bp 3'