Canonical Allele Identifier: CA2059449318
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855194G= , CM000674.2:g.102855194G= GRCh38
NC_000012.11:g.103248972G= , CM000674.1:g.103248972G= GRCh37
NC_000012.10:g.101773102G= NCBI36
NG_008690.1:g.67409C=
NG_008690.2:g.108217C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.648C= MANE Select ENSP00000448059.1:p.Tyr216=
ENST00000307000.7:c.633C= ENSP00000303500.2:p.Tyr211=
ENST00000549111.5:n.744C=
ENST00000553106.5:c.648C= ENSP00000448059.1:p.Tyr216=
NM_000277.1:c.648C= NP_000268.1:p.Tyr216=
XM_011538422.1:c.648C= XP_011536724.1:p.Tyr216=
NM_000277.2:c.648C= NP_000268.1:p.Tyr216=
NM_001354304.1:c.648C= NP_001341233.1:p.Tyr216=
XM_017019370.2:c.648C= XP_016874859.1:p.Tyr216=
NM_000277.3:c.648C= MANE Select NP_000268.1:p.Tyr216=
NM_001354304.2:c.648C= NP_001341233.1:p.Tyr216=
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