Canonical Allele Identifier: CA951260526
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1878402692
gnomAD v3: 12-102916881-G-A
gnomAD v4: 12-102916881-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102916881G>A , CM000674.2:g.102916881G>A GRCh38
NC_000012.11:g.103310659G>A , CM000674.1:g.103310659G>A GRCh37
NC_000012.10:g.101834789G>A NCBI36
NG_008690.1:g.5722C>T
NG_008690.2:g.46530C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+190C>T MANE Select ENSP00000448059.1:n.60+190C>T
ENST00000307000.7:c.-88+190C>T ENSP00000303500.2:n.-88+190C>T
ENST00000546844.1:c.60+190C>T ENSP00000446658.1:n.60+190C>T
ENST00000547319.1:n.371+190C>T
ENST00000549111.5:n.156+190C>T
ENST00000550978.6:c.44+190C>T
ENST00000551337.5:c.60+190C>T ENSP00000447620.1:n.60+190C>T
ENST00000551988.5:n.149+190C>T
ENST00000553106.5:c.60+190C>T ENSP00000448059.1:n.60+190C>T
ENST00000635500.1:n.29-3983C>T
NM_000277.1:c.60+190C>T NP_000268.1:n.60+190C>T
XM_011538422.1:c.60+190C>T XP_011536724.1:n.60+190C>T
NM_000277.2:c.60+190C>T NP_000268.1:n.60+190C>T
NM_001354304.1:c.60+190C>T NP_001341233.1:n.60+190C>T
XM_017019370.2:c.60+190C>T XP_016874859.1:n.60+190C>T
NM_000277.3:c.60+190C>T MANE Select NP_000268.1:n.60+190C>T
NM_001354304.2:c.60+190C>T NP_001341233.1:n.60+190C>T
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