Canonical Allele Identifier: CA951258361
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1878246673
gnomAD v3: 12-102912711-C-CTTTTCATTGCA
gnomAD v4: 12-102912711-C-CTTTTCATTGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912713_102912723dup , CM000674.2:g.102912713_102912723dup GRCh38
NC_000012.11:g.103306491_103306501dup , CM000674.1:g.103306491_103306501dup GRCh37
NC_000012.10:g.101830621_101830631dup NCBI36
NG_008690.1:g.9881_9891dup
NG_008690.2:g.50689_50699dup

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.168+69_168+79dup MANE Select ENSP00000448059.1:n.168+69_168+79dup
ENST00000307000.7:c.153+69_153+79dup ENSP00000303500.2:n.153+69_153+79dup
ENST00000546844.1:c.168+69_168+79dup ENSP00000446658.1:n.168+69_168+79dup
ENST00000548677.2:n.255+69_255+79dup
ENST00000548928.1:n.90+69_90+79dup
ENST00000549111.5:n.264+69_264+79dup
ENST00000550978.6:c.152+69_152+79dup
ENST00000551337.5:c.168+69_168+79dup ENSP00000447620.1:n.168+69_168+79dup
ENST00000551988.5:n.257+69_257+79dup
ENST00000553106.5:c.168+69_168+79dup ENSP00000448059.1:n.168+69_168+79dup
ENST00000635500.1:n.136+69_136+79dup
NM_000277.1:c.168+69_168+79dup NP_000268.1:n.168+69_168+79dup
XM_011538422.1:c.168+69_168+79dup XP_011536724.1:n.168+69_168+79dup
NM_000277.2:c.168+69_168+79dup NP_000268.1:n.168+69_168+79dup
NM_001354304.1:c.168+69_168+79dup NP_001341233.1:n.168+69_168+79dup
XM_017019370.2:c.168+69_168+79dup XP_016874859.1:n.168+69_168+79dup
NM_000277.3:c.168+69_168+79dup MANE Select NP_000268.1:n.168+69_168+79dup
NM_001354304.2:c.168+69_168+79dup NP_001341233.1:n.168+69_168+79dup
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