Canonical Allele Identifier: CA386291633
Gene: PAH HGNC NCBI

Linked Data

COSMIC: COSM3710538
MyVariant Identifiers: chr12:g.103240696C>T (hg19) chr12:g.102846918C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846918C>T , CM000674.2:g.102846918C>T GRCh38
NC_000012.11:g.103240696C>T , CM000674.1:g.103240696C>T GRCh37
NC_000012.10:g.101764826C>T NCBI36
NG_008690.1:g.75685G>A
NG_008690.2:g.116493G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.946G>A MANE Select ENSP00000448059.1:p.Glu316Lys
ENST00000307000.7:c.931G>A ENSP00000303500.2:p.Glu311Lys
ENST00000549247.6:n.705G>A
ENST00000551114.2:n.608G>A
ENST00000553106.5:c.946G>A ENSP00000448059.1:p.Glu316Lys
ENST00000635477.1:c.74-2487G>A
ENST00000635528.1:n.461G>A
NM_000277.1:c.946G>A NP_000268.1:p.Glu316Lys
XM_011538422.1:c.913-2487G>A XP_011536724.1:n.913-2487G>A
NM_000277.2:c.946G>A NP_000268.1:p.Glu316Lys
NM_001354304.1:c.946G>A NP_001341233.1:p.Glu316Lys
NM_000277.3:c.946G>A MANE Select NP_000268.1:p.Glu316Lys
NM_001354304.2:c.946G>A NP_001341233.1:p.Glu316Lys
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