Canonical Allele Identifier: CA2979026048
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840308T>G , CM000674.2:g.102840308T>G GRCh38
NC_000012.11:g.103234086T>G , CM000674.1:g.103234086T>G GRCh37
NC_000012.10:g.101758216T>G NCBI36
NG_008690.1:g.82295A>C
NG_008690.2:g.123103A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1315+92A>C MANE Select ENSP00000448059.1:n.1315+92A>C
ENST00000307000.7:c.1300+92A>C ENSP00000303500.2:n.1300+92A>C
ENST00000551114.2:n.977+92A>C
ENST00000553106.5:c.1315+92A>C ENSP00000448059.1:n.1315+92A>C
ENST00000635477.1:c.419+92A>C
ENST00000635528.1:n.830+92A>C
NM_000277.1:c.1315+92A>C NP_000268.1:n.1315+92A>C
XM_011538422.1:c.1258+92A>C XP_011536724.1:n.1258+92A>C
NM_000277.2:c.1315+92A>C NP_000268.1:n.1315+92A>C
NM_001354304.1:c.1315+92A>C NP_001341233.1:n.1315+92A>C
NM_000277.3:c.1315+92A>C MANE Select NP_000268.1:n.1315+92A>C
NM_001354304.2:c.1315+92A>C NP_001341233.1:n.1315+92A>C
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