Canonical Allele Identifier: CA2620510333
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102917180-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917180G>T , CM000674.2:g.102917180G>T GRCh38
NC_000012.11:g.103310958G>T , CM000674.1:g.103310958G>T GRCh37
NC_000012.10:g.101835088G>T NCBI36
NG_008690.1:g.5423C>A
NG_008690.2:g.46231C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-50C>A MANE Select ENSP00000448059.1:n.-50C>A
ENST00000307000.7:c.-197C>A ENSP00000303500.2:n.-197C>A
ENST00000546708.5:n.538C>A
ENST00000546844.1:c.-50C>A ENSP00000446658.1:n.-50C>A
ENST00000547319.1:n.262C>A
ENST00000549111.5:n.47C>A
ENST00000551337.5:c.-50C>A ENSP00000447620.1:n.-50C>A
ENST00000551988.5:n.40C>A
ENST00000553106.5:c.-50C>A ENSP00000448059.1:n.-50C>A
ENST00000635500.1:n.29-4282C>A
NM_000277.1:c.-50C>A NP_000268.1:n.-50C>A
XM_011538422.1:c.-50C>A XP_011536724.1:n.-50C>A
NM_000277.2:c.-50C>A NP_000268.1:n.-50C>A
NM_001354304.1:c.-50C>A NP_001341233.1:n.-50C>A
XM_017019370.2:c.-50C>A XP_016874859.1:n.-50C>A
NM_000277.3:c.-50C>A MANE Select NP_000268.1:n.-50C>A
NM_001354304.2:c.-50C>A NP_001341233.1:n.-50C>A
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