Canonical Allele Identifier: CA229499
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102638
dbSNP Id: rs63749677

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894832_102894847del , CM000674.2:g.102894832_102894847del GRCh38
NC_000012.11:g.103288610_103288625del , CM000674.1:g.103288610_103288625del GRCh37
NC_000012.10:g.101812740_101812755del NCBI36
NG_008690.1:g.27757_27772del
NG_008690.2:g.68565_68580del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.241_256del MANE Select ENSP00000448059.1:p.Thr81ValfsTer6
ENST00000307000.7:c.226_241del ENSP00000303500.2:p.Thr76ValfsTer6
ENST00000546844.1:c.241_256del ENSP00000446658.1:p.Thr81ValfsTer6
ENST00000548677.2:n.328_343del
ENST00000548928.1:n.163_178del
ENST00000549111.5:n.337_352del
ENST00000550978.6:c.225_240del
ENST00000551337.5:c.241_256del ENSP00000447620.1:p.Thr81ValfsTer6
ENST00000551988.5:n.330_345del
ENST00000553106.5:c.241_256del ENSP00000448059.1:p.Thr81ValfsTer6
NM_000277.1:c.241_256del NP_000268.1:p.Thr81ValfsTer6
XM_011538422.1:c.241_256del XP_011536724.1:p.Thr81ValfsTer6
NM_000277.2:c.241_256del NP_000268.1:p.Thr81ValfsTer6
NM_001354304.1:c.241_256del NP_001341233.1:p.Thr81ValfsTer6
XM_017019370.2:c.241_256del XP_016874859.1:p.Thr81ValfsTer6
NM_000277.3:c.241_256del MANE Select NP_000268.1:p.Thr81ValfsTer6
NM_001354304.2:c.241_256del NP_001341233.1:p.Thr81ValfsTer6