Canonical Allele Identifier: CA386291593
Community Standard Title: NM_000277.3(PAH):c.953T>A (p.Ile318Asn)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846911A>T , CM000674.2:g.102846911A>T GRCh38
NC_000012.11:g.103240689A>T , CM000674.1:g.103240689A>T GRCh37
NC_000012.10:g.101764819A>T NCBI36
NG_008690.1:g.75692T>A
NG_008690.2:g.116500T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.953T>A MANE Select NP_000268.1:p.Ile318Asn
ENST00000553106.6:c.953T>A MANE Select ENSP00000448059.1:p.Ile318Asn
NM_000277.1:c.953T>A NP_000268.1:p.Ile318Asn
NM_000277.2:c.953T>A NP_000268.1:p.Ile318Asn
NM_001354304.1:c.953T>A NP_001341233.1:p.Ile318Asn
NM_001354304.2:c.953T>A NP_001341233.1:p.Ile318Asn
ENST00000307000.7:c.938T>A ENSP00000303500.2:p.Ile313Asn
ENST00000549247.6:n.712T>A
ENST00000551114.2:n.615T>A
ENST00000553106.5:c.953T>A ENSP00000448059.1:p.Ile318Asn
ENST00000635477.1:c.74-2480T>A
ENST00000635528.1:n.468T>A
XM_011538422.1:c.913-2480T>A XP_011536724.1:n.913-2480T>A
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