Canonical Allele Identifier: CA2581110843
Community Standard Title: NM_000277.3(PAH):c.706+56G>C
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855080C>G , CM000674.2:g.102855080C>G GRCh38
NC_000012.11:g.103248858C>G , CM000674.1:g.103248858C>G GRCh37
NC_000012.10:g.101772988C>G NCBI36
NG_008690.1:g.67523G>C
NG_008690.2:g.108331G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.706+56G>C MANE Select NP_000268.1:n.706+56G>C
ENST00000553106.6:c.706+56G>C MANE Select ENSP00000448059.1:n.706+56G>C
NM_000277.1:c.706+56G>C NP_000268.1:n.706+56G>C
NM_000277.2:c.706+56G>C NP_000268.1:n.706+56G>C
NM_001354304.1:c.706+56G>C NP_001341233.1:n.706+56G>C
NM_001354304.2:c.706+56G>C NP_001341233.1:n.706+56G>C
ENST00000307000.7:c.691+56G>C ENSP00000303500.2:n.691+56G>C
ENST00000549111.5:n.858G>C
ENST00000553106.5:c.706+56G>C ENSP00000448059.1:n.706+56G>C
XM_011538422.1:c.706+56G>C XP_011536724.1:n.706+56G>C
XM_017019370.2:c.706+56G>C XP_016874859.1:n.706+56G>C
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