Canonical Allele Identifier: CA3197746816
Community Standard Title: NM_000277.3(PAH):c.961C= (p.Leu321=)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846903G= , CM000674.2:g.102846903G= GRCh38
NC_000012.11:g.103240681G= , CM000674.1:g.103240681G= GRCh37
NC_000012.10:g.101764811G= NCBI36
NG_008690.1:g.75700C=
NG_008690.2:g.116508C=

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.961C= MANE Select NP_000268.1:p.Leu321=
ENST00000553106.6:c.961C= MANE Select ENSP00000448059.1:p.Leu321=
NM_000277.1:c.961C= NP_000268.1:p.Leu321=
NM_000277.2:c.961C= NP_000268.1:p.Leu321=
NM_001354304.1:c.961C= NP_001341233.1:p.Leu321=
NM_001354304.2:c.961C= NP_001341233.1:p.Leu321=
ENST00000307000.7:c.946C= ENSP00000303500.2:p.Leu316=
ENST00000549247.6:n.720C=
ENST00000551114.2:n.623C=
ENST00000553106.5:c.961C= ENSP00000448059.1:p.Leu321=
ENST00000635477.1:c.74-2472C=
ENST00000635528.1:n.476C=
XM_011538422.1:c.913-2472C= XP_011536724.1:n.913-2472C=
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