Allele Registry

Canonical Allele Identifier: CA229429

Community Standard Title: NM_000277.3(PAH):c.1315+2T>C

Gene: PAH HGNC NCBI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840398A>G , CM000674.2:g.102840398A>G	GRCh38
NC_000012.11:g.103234176A>G , CM000674.1:g.103234176A>G	GRCh37
NC_000012.10:g.101758306A>G	NCBI36
NG_008690.1:g.82205T>C
NG_008690.2:g.123013T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.1315+2T>C MANE Select	NP_000268.1:n.1315+2T>C
ENST00000553106.6:c.1315+2T>C MANE Select	ENSP00000448059.1:n.1315+2T>C
NM_000277.1:c.1315+2T>C	NP_000268.1:n.1315+2T>C
NM_000277.2:c.1315+2T>C	NP_000268.1:n.1315+2T>C
NM_001354304.1:c.1315+2T>C	NP_001341233.1:n.1315+2T>C
NM_001354304.2:c.1315+2T>C	NP_001341233.1:n.1315+2T>C
ENST00000307000.7:c.1300+2T>C	ENSP00000303500.2:n.1300+2T>C
ENST00000551114.2:n.977+2T>C
ENST00000553106.5:c.1315+2T>C	ENSP00000448059.1:n.1315+2T>C
ENST00000635477.1:c.419+2T>C
ENST00000635528.1:n.830+2T>C
XM_011538422.1:c.1258+2T>C	XP_011536724.1:n.1258+2T>C

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