Canonical Allele Identifier: CA2575266802
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846848A>C , CM000674.2:g.102846848A>C GRCh38
NC_000012.11:g.103240626A>C , CM000674.1:g.103240626A>C GRCh37
NC_000012.10:g.101764756A>C NCBI36
NG_008690.1:g.75755T>G
NG_008690.2:g.116563T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+47T>G MANE Select ENSP00000448059.1:n.969+47T>G
ENST00000307000.7:c.954+47T>G ENSP00000303500.2:n.954+47T>G
ENST00000549247.6:n.728+47T>G
ENST00000551114.2:n.631+47T>G
ENST00000553106.5:c.969+47T>G ENSP00000448059.1:n.969+47T>G
ENST00000635477.1:c.74-2417T>G
ENST00000635528.1:n.484+47T>G
NM_000277.1:c.969+47T>G NP_000268.1:n.969+47T>G
XM_011538422.1:c.913-2417T>G XP_011536724.1:n.913-2417T>G
NM_000277.2:c.969+47T>G NP_000268.1:n.969+47T>G
NM_001354304.1:c.969+47T>G NP_001341233.1:n.969+47T>G
NM_000277.3:c.969+47T>G MANE Select NP_000268.1:n.969+47T>G
NM_001354304.2:c.969+47T>G NP_001341233.1:n.969+47T>G
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