Canonical Allele Identifier: CA3021979845
Community Standard Title: NM_000277.3(PAH):c.706+575A>G
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854561T>C , CM000674.2:g.102854561T>C GRCh38
NC_000012.11:g.103248339T>C , CM000674.1:g.103248339T>C GRCh37
NC_000012.10:g.101772469T>C NCBI36
NG_008690.1:g.68042A>G
NG_008690.2:g.108850A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.706+575A>G MANE Select NP_000268.1:n.706+575A>G
ENST00000553106.6:c.706+575A>G MANE Select ENSP00000448059.1:n.706+575A>G
NM_000277.1:c.706+575A>G NP_000268.1:n.706+575A>G
NM_000277.2:c.706+575A>G NP_000268.1:n.706+575A>G
NM_001354304.1:c.706+575A>G NP_001341233.1:n.706+575A>G
NM_001354304.2:c.706+575A>G NP_001341233.1:n.706+575A>G
ENST00000307000.7:c.691+575A>G ENSP00000303500.2:n.691+575A>G
ENST00000553106.5:c.706+575A>G ENSP00000448059.1:n.706+575A>G
XM_011538422.1:c.706+575A>G XP_011536724.1:n.706+575A>G
XM_017019370.2:c.*224A>G XP_016874859.1:n.*224A>G
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