Canonical Allele Identifier: CA2059450836
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874845313
gnomAD v3: 12-102846412-G-C
gnomAD v4: 12-102846412-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846412G>C , CM000674.2:g.102846412G>C GRCh38
NC_000012.11:g.103240190G>C , CM000674.1:g.103240190G>C GRCh37
NC_000012.10:g.101764320G>C NCBI36
NG_008690.1:g.76191C>G
NG_008690.2:g.116999C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+483C>G MANE Select ENSP00000448059.1:n.969+483C>G
ENST00000307000.7:c.954+483C>G ENSP00000303500.2:n.954+483C>G
ENST00000549247.6:n.728+483C>G
ENST00000551114.2:n.631+483C>G
ENST00000553106.5:c.969+483C>G ENSP00000448059.1:n.969+483C>G
ENST00000635477.1:c.74-1981C>G
ENST00000635528.1:n.484+483C>G
NM_000277.1:c.969+483C>G NP_000268.1:n.969+483C>G
XM_011538422.1:c.913-1981C>G XP_011536724.1:n.913-1981C>G
NM_000277.2:c.969+483C>G NP_000268.1:n.969+483C>G
NM_001354304.1:c.969+483C>G NP_001341233.1:n.969+483C>G
NM_000277.3:c.969+483C>G MANE Select NP_000268.1:n.969+483C>G
NM_001354304.2:c.969+483C>G NP_001341233.1:n.969+483C>G
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