Canonical Allele Identifier: CA386296638
Community Standard Title: NM_000277.3(PAH):c.647A>T (p.Tyr216Phe)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855195T>A , CM000674.2:g.102855195T>A GRCh38
NC_000012.11:g.103248973T>A , CM000674.1:g.103248973T>A GRCh37
NC_000012.10:g.101773103T>A NCBI36
NG_008690.1:g.67408A>T
NG_008690.2:g.108216A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.647A>T MANE Select NP_000268.1:p.Tyr216Phe
ENST00000553106.6:c.647A>T MANE Select ENSP00000448059.1:p.Tyr216Phe
NM_000277.1:c.647A>T NP_000268.1:p.Tyr216Phe
NM_000277.2:c.647A>T NP_000268.1:p.Tyr216Phe
NM_001354304.1:c.647A>T NP_001341233.1:p.Tyr216Phe
NM_001354304.2:c.647A>T NP_001341233.1:p.Tyr216Phe
ENST00000307000.7:c.632A>T ENSP00000303500.2:p.Tyr211Phe
ENST00000549111.5:n.743A>T
ENST00000553106.5:c.647A>T ENSP00000448059.1:p.Tyr216Phe
XM_011538422.1:c.647A>T XP_011536724.1:p.Tyr216Phe
XM_017019370.2:c.647A>T XP_016874859.1:p.Tyr216Phe
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