Canonical Allele Identifier: CA2059447800
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874728864
gnomAD v3: 12-102844267-G-A
gnomAD v4: 12-102844267-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844267G>A , CM000674.2:g.102844267G>A GRCh38
NC_000012.11:g.103238045G>A , CM000674.1:g.103238045G>A GRCh37
NC_000012.10:g.101762175G>A NCBI36
NG_008690.1:g.78336C>T
NG_008690.2:g.119144C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1065+69C>T MANE Select ENSP00000448059.1:n.1065+69C>T
ENST00000307000.7:c.1050+69C>T ENSP00000303500.2:n.1050+69C>T
ENST00000549247.6:n.824+69C>T
ENST00000551114.2:n.727+69C>T
ENST00000553106.5:c.1065+69C>T ENSP00000448059.1:n.1065+69C>T
ENST00000635477.1:c.169+69C>T
ENST00000635528.1:n.580+69C>T
NM_000277.1:c.1065+69C>T NP_000268.1:n.1065+69C>T
XM_011538422.1:c.1008+69C>T XP_011536724.1:n.1008+69C>T
NM_000277.2:c.1065+69C>T NP_000268.1:n.1065+69C>T
NM_001354304.1:c.1065+69C>T NP_001341233.1:n.1065+69C>T
NM_000277.3:c.1065+69C>T MANE Select NP_000268.1:n.1065+69C>T
NM_001354304.2:c.1065+69C>T NP_001341233.1:n.1065+69C>T
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