Canonical Allele Identifier: CA2059476232
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1878421479
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917240del , CM000674.2:g.102917240del GRCh38
NC_000012.11:g.103311018del , CM000674.1:g.103311018del GRCh37
NC_000012.10:g.101835148del NCBI36
NG_008690.1:g.5363del
NG_008690.2:g.46171del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-110del MANE Select ENSP00000448059.1:n.-110del
ENST00000307000.7:c.-257del ENSP00000303500.2:n.-257del
ENST00000546708.5:n.493-15del
ENST00000546844.1:c.-95-15del ENSP00000446658.1:n.-95-15del
ENST00000547319.1:n.217-15del
ENST00000551337.5:c.-95-15del ENSP00000447620.1:n.-95-15del
ENST00000553106.5:c.-110del ENSP00000448059.1:n.-110del
ENST00000635500.1:n.29-4342del
NM_000277.1:c.-110del NP_000268.1:n.-110del
XM_011538422.1:c.-110del XP_011536724.1:n.-110del
NM_000277.2:c.-110del NP_000268.1:n.-110del
NM_001354304.1:c.-95-15del NP_001341233.1:n.-95-15del
XM_017019370.2:c.-110del XP_016874859.1:n.-110del
NM_000277.3:c.-110del MANE Select NP_000268.1:n.-110del
NM_001354304.2:c.-95-15del NP_001341233.1:n.-95-15del
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