Canonical Allele Identifier: CA2620509224
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102846820-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846820G>T , CM000674.2:g.102846820G>T GRCh38
NC_000012.11:g.103240598G>T , CM000674.1:g.103240598G>T GRCh37
NC_000012.10:g.101764728G>T NCBI36
NG_008690.1:g.75783C>A
NG_008690.2:g.116591C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+75C>A MANE Select ENSP00000448059.1:n.969+75C>A
ENST00000307000.7:c.954+75C>A ENSP00000303500.2:n.954+75C>A
ENST00000549247.6:n.728+75C>A
ENST00000551114.2:n.631+75C>A
ENST00000553106.5:c.969+75C>A ENSP00000448059.1:n.969+75C>A
ENST00000635477.1:c.74-2389C>A
ENST00000635528.1:n.484+75C>A
NM_000277.1:c.969+75C>A NP_000268.1:n.969+75C>A
XM_011538422.1:c.913-2389C>A XP_011536724.1:n.913-2389C>A
NM_000277.2:c.969+75C>A NP_000268.1:n.969+75C>A
NM_001354304.1:c.969+75C>A NP_001341233.1:n.969+75C>A
NM_000277.3:c.969+75C>A MANE Select NP_000268.1:n.969+75C>A
NM_001354304.2:c.969+75C>A NP_001341233.1:n.969+75C>A
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