Canonical Allele Identifier: CA481330795
Community Standard Title: NM_000277.3(PAH):c.945T>C (p.Asp315=)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846919A>G , CM000674.2:g.102846919A>G GRCh38
NC_000012.11:g.103240697A>G , CM000674.1:g.103240697A>G GRCh37
NC_000012.10:g.101764827A>G NCBI36
NG_008690.1:g.75684T>C
NG_008690.2:g.116492T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.945T>C MANE Select NP_000268.1:p.Asp315=
ENST00000553106.6:c.945T>C MANE Select ENSP00000448059.1:p.Asp315=
NM_000277.1:c.945T>C NP_000268.1:p.Asp315=
NM_000277.2:c.945T>C NP_000268.1:p.Asp315=
NM_001354304.1:c.945T>C NP_001341233.1:p.Asp315=
NM_001354304.2:c.945T>C NP_001341233.1:p.Asp315=
ENST00000307000.7:c.930T>C ENSP00000303500.2:p.Asp310=
ENST00000549247.6:n.704T>C
ENST00000551114.2:n.607T>C
ENST00000553106.5:c.945T>C ENSP00000448059.1:p.Asp315=
ENST00000635477.1:c.74-2488T>C
ENST00000635528.1:n.460T>C
XM_011538422.1:c.913-2488T>C XP_011536724.1:n.913-2488T>C
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