Canonical Allele Identifier: CA16020721
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 805805
ClinVar RCV Id: RCV000993600
dbSNP Id: rs199475662

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917072T>G , CM000674.2:g.102917072T>G GRCh38
NC_000012.11:g.103310850T>G , CM000674.1:g.103310850T>G GRCh37
NC_000012.10:g.101834980T>G NCBI36
NG_008690.1:g.5531A>C
NG_008690.2:g.46339A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.59A>C MANE Select ENSP00000448059.1:p.Gln20Pro
ENST00000307000.7:c.-89A>C ENSP00000303500.2:n.-89A>C
ENST00000546844.1:c.59A>C ENSP00000446658.1:p.Gln20Pro
ENST00000547319.1:n.370A>C
ENST00000549111.5:n.155A>C
ENST00000550978.6:c.43A>C
ENST00000551337.5:c.59A>C ENSP00000447620.1:p.Gln20Pro
ENST00000551988.5:n.148A>C
ENST00000553106.5:c.59A>C ENSP00000448059.1:p.Gln20Pro
ENST00000635500.1:n.29-4174A>C
NM_000277.1:c.59A>C NP_000268.1:p.Gln20Pro
XM_011538422.1:c.59A>C XP_011536724.1:p.Gln20Pro
NM_000277.2:c.59A>C NP_000268.1:p.Gln20Pro
NM_001354304.1:c.59A>C NP_001341233.1:p.Gln20Pro
XM_017019370.2:c.59A>C XP_016874859.1:p.Gln20Pro
NM_000277.3:c.59A>C MANE Select NP_000268.1:p.Gln20Pro
NM_001354304.2:c.59A>C NP_001341233.1:p.Gln20Pro