Canonical Allele Identifier: CA2575267211
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917068C>T , CM000674.2:g.102917068C>T GRCh38
NC_000012.11:g.103310846C>T , CM000674.1:g.103310846C>T GRCh37
NC_000012.10:g.101834976C>T NCBI36
NG_008690.1:g.5535G>A
NG_008690.2:g.46343G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+3G>A MANE Select ENSP00000448059.1:n.60+3G>A
ENST00000307000.7:c.-88+3G>A ENSP00000303500.2:n.-88+3G>A
ENST00000546844.1:c.60+3G>A ENSP00000446658.1:n.60+3G>A
ENST00000547319.1:n.371+3G>A
ENST00000549111.5:n.156+3G>A
ENST00000550978.6:c.44+3G>A
ENST00000551337.5:c.60+3G>A ENSP00000447620.1:n.60+3G>A
ENST00000551988.5:n.149+3G>A
ENST00000553106.5:c.60+3G>A ENSP00000448059.1:n.60+3G>A
ENST00000635500.1:n.29-4170G>A
NM_000277.1:c.60+3G>A NP_000268.1:n.60+3G>A
XM_011538422.1:c.60+3G>A XP_011536724.1:n.60+3G>A
NM_000277.2:c.60+3G>A NP_000268.1:n.60+3G>A
NM_001354304.1:c.60+3G>A NP_001341233.1:n.60+3G>A
XM_017019370.2:c.60+3G>A XP_016874859.1:n.60+3G>A
NM_000277.3:c.60+3G>A MANE Select NP_000268.1:n.60+3G>A
NM_001354304.2:c.60+3G>A NP_001341233.1:n.60+3G>A
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