Canonical Allele Identifier: CA2575266801
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102846846-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846846C>T , CM000674.2:g.102846846C>T GRCh38
NC_000012.11:g.103240624C>T , CM000674.1:g.103240624C>T GRCh37
NC_000012.10:g.101764754C>T NCBI36
NG_008690.1:g.75757G>A
NG_008690.2:g.116565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+49G>A MANE Select ENSP00000448059.1:n.969+49G>A
ENST00000307000.7:c.954+49G>A ENSP00000303500.2:n.954+49G>A
ENST00000549247.6:n.728+49G>A
ENST00000551114.2:n.631+49G>A
ENST00000553106.5:c.969+49G>A ENSP00000448059.1:n.969+49G>A
ENST00000635477.1:c.74-2415G>A
ENST00000635528.1:n.484+49G>A
NM_000277.1:c.969+49G>A NP_000268.1:n.969+49G>A
XM_011538422.1:c.913-2415G>A XP_011536724.1:n.913-2415G>A
NM_000277.2:c.969+49G>A NP_000268.1:n.969+49G>A
NM_001354304.1:c.969+49G>A NP_001341233.1:n.969+49G>A
NM_000277.3:c.969+49G>A MANE Select NP_000268.1:n.969+49G>A
NM_001354304.2:c.969+49G>A NP_001341233.1:n.969+49G>A
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