Canonical Allele Identifier: CA2620509871
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2833013
ClinVar RCV Id: RCV003599402
gnomAD v4: 12-102917059-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917059G>A , CM000674.2:g.102917059G>A GRCh38
NC_000012.11:g.103310837G>A , CM000674.1:g.103310837G>A GRCh37
NC_000012.10:g.101834967G>A NCBI36
NG_008690.1:g.5544C>T
NG_008690.2:g.46352C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.60+12C>T MANE Select ENSP00000448059.1:n.60+12C>T
ENST00000307000.7:c.-88+12C>T ENSP00000303500.2:n.-88+12C>T
ENST00000546844.1:c.60+12C>T ENSP00000446658.1:n.60+12C>T
ENST00000547319.1:n.371+12C>T
ENST00000549111.5:n.156+12C>T
ENST00000550978.6:c.44+12C>T
ENST00000551337.5:c.60+12C>T ENSP00000447620.1:n.60+12C>T
ENST00000551988.5:n.149+12C>T
ENST00000553106.5:c.60+12C>T ENSP00000448059.1:n.60+12C>T
ENST00000635500.1:n.29-4161C>T
NM_000277.1:c.60+12C>T NP_000268.1:n.60+12C>T
XM_011538422.1:c.60+12C>T XP_011536724.1:n.60+12C>T
NM_000277.2:c.60+12C>T NP_000268.1:n.60+12C>T
NM_001354304.1:c.60+12C>T NP_001341233.1:n.60+12C>T
XM_017019370.2:c.60+12C>T XP_016874859.1:n.60+12C>T
NM_000277.3:c.60+12C>T MANE Select NP_000268.1:n.60+12C>T
NM_001354304.2:c.60+12C>T NP_001341233.1:n.60+12C>T
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