Canonical Allele Identifier: CA2620509250
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102846838-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846838C>A , CM000674.2:g.102846838C>A GRCh38
NC_000012.11:g.103240616C>A , CM000674.1:g.103240616C>A GRCh37
NC_000012.10:g.101764746C>A NCBI36
NG_008690.1:g.75765G>T
NG_008690.2:g.116573G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+57G>T MANE Select ENSP00000448059.1:n.969+57G>T
ENST00000307000.7:c.954+57G>T ENSP00000303500.2:n.954+57G>T
ENST00000549247.6:n.728+57G>T
ENST00000551114.2:n.631+57G>T
ENST00000553106.5:c.969+57G>T ENSP00000448059.1:n.969+57G>T
ENST00000635477.1:c.74-2407G>T
ENST00000635528.1:n.484+57G>T
NM_000277.1:c.969+57G>T NP_000268.1:n.969+57G>T
XM_011538422.1:c.913-2407G>T XP_011536724.1:n.913-2407G>T
NM_000277.2:c.969+57G>T NP_000268.1:n.969+57G>T
NM_001354304.1:c.969+57G>T NP_001341233.1:n.969+57G>T
NM_000277.3:c.969+57G>T MANE Select NP_000268.1:n.969+57G>T
NM_001354304.2:c.969+57G>T NP_001341233.1:n.969+57G>T
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