Canonical Allele Identifier: CA242469035
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs199475566
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912795_102912796del , CM000674.2:g.102912795_102912796del GRCh38
NC_000012.11:g.103306573_103306574del , CM000674.1:g.103306573_103306574del GRCh37
NC_000012.10:g.101830703_101830704del NCBI36
NG_008690.1:g.9808_9809del
NG_008690.2:g.50616_50617del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.164_165del MANE Select ENSP00000448059.1:p.Phe55Ter
ENST00000307000.7:c.149_150del ENSP00000303500.2:p.Phe50Ter
ENST00000546844.1:c.164_165del ENSP00000446658.1:p.Phe55Ter
ENST00000548677.2:n.251_252del
ENST00000548928.1:n.86_87del
ENST00000549111.5:n.260_261del
ENST00000550978.6:c.148_149del
ENST00000551337.5:c.164_165del ENSP00000447620.1:p.Phe55Ter
ENST00000551988.5:n.253_254del
ENST00000553106.5:c.164_165del ENSP00000448059.1:p.Phe55Ter
ENST00000635500.1:n.132_133del
NM_000277.1:c.164_165del NP_000268.1:p.Phe55Ter
XM_011538422.1:c.164_165del XP_011536724.1:p.Phe55Ter
NM_000277.2:c.164_165del NP_000268.1:p.Phe55Ter
NM_001354304.1:c.164_165del NP_001341233.1:p.Phe55Ter
XM_017019370.2:c.164_165del XP_016874859.1:p.Phe55Ter
NM_000277.3:c.164_165del MANE Select NP_000268.1:p.Phe55Ter
NM_001354304.2:c.164_165del NP_001341233.1:p.Phe55Ter
Search 100 bp 5'
Search 100 bp 3'