Canonical Allele Identifier: CA229490
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102632
dbSNP Id: rs62642094

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894879_102894881del , CM000674.2:g.102894879_102894881del GRCh38
NC_000012.11:g.103288657_103288659del , CM000674.1:g.103288657_103288659del GRCh37
NC_000012.10:g.101812787_101812789del NCBI36
NG_008690.1:g.27724_27726del
NG_008690.2:g.68532_68534del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.208_210del MANE Select ENSP00000448059.1:p.Ser70del
ENST00000307000.7:c.193_195del ENSP00000303500.2:p.Ser65del
ENST00000546844.1:c.208_210del ENSP00000446658.1:p.Ser70del
ENST00000548677.2:n.295_297del
ENST00000548928.1:n.130_132del
ENST00000549111.5:n.304_306del
ENST00000550978.6:c.192_194del
ENST00000551337.5:c.208_210del ENSP00000447620.1:p.Ser70del
ENST00000551988.5:n.297_299del
ENST00000553106.5:c.208_210del ENSP00000448059.1:p.Ser70del
ENST00000635500.1:n.176_178del
NM_000277.1:c.208_210del NP_000268.1:p.Ser70del
XM_011538422.1:c.208_210del XP_011536724.1:p.Ser70del
NM_000277.2:c.208_210del NP_000268.1:p.Ser70del
NM_001354304.1:c.208_210del NP_001341233.1:p.Ser70del
XM_017019370.2:c.208_210del XP_016874859.1:p.Ser70del
NM_000277.3:c.208_210del MANE Select NP_000268.1:p.Ser70del
NM_001354304.2:c.208_210del NP_001341233.1:p.Ser70del