Canonical Allele Identifier: CA2059467407
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1877445912
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102895070G>T , CM000674.2:g.102895070G>T GRCh38
NC_000012.11:g.103288848G>T , CM000674.1:g.103288848G>T GRCh37
NC_000012.10:g.101812978G>T NCBI36
NG_008690.1:g.27533C>A
NG_008690.2:g.68341C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-152C>A MANE Select ENSP00000448059.1:n.169-152C>A
ENST00000307000.7:c.154-152C>A ENSP00000303500.2:n.154-152C>A
ENST00000546844.1:c.169-152C>A ENSP00000446658.1:n.169-152C>A
ENST00000548677.2:n.256-152C>A
ENST00000548928.1:n.91-152C>A
ENST00000549111.5:n.265-152C>A
ENST00000550978.6:c.153-152C>A
ENST00000551337.5:c.169-152C>A ENSP00000447620.1:n.169-152C>A
ENST00000551988.5:n.258-152C>A
ENST00000553106.5:c.169-152C>A ENSP00000448059.1:n.169-152C>A
ENST00000635500.1:n.137-152C>A
NM_000277.1:c.169-152C>A NP_000268.1:n.169-152C>A
XM_011538422.1:c.169-152C>A XP_011536724.1:n.169-152C>A
NM_000277.2:c.169-152C>A NP_000268.1:n.169-152C>A
NM_001354304.1:c.169-152C>A NP_001341233.1:n.169-152C>A
XM_017019370.2:c.169-152C>A XP_016874859.1:n.169-152C>A
NM_000277.3:c.169-152C>A MANE Select NP_000268.1:n.169-152C>A
NM_001354304.2:c.169-152C>A NP_001341233.1:n.169-152C>A
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