Canonical Allele Identifier: CA2059476225
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1878420591
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917228dup , CM000674.2:g.102917228dup GRCh38
NC_000012.11:g.103311006dup , CM000674.1:g.103311006dup GRCh37
NC_000012.10:g.101835136dup NCBI36
NG_008690.1:g.5375dup
NG_008690.2:g.46183dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-98dup MANE Select ENSP00000448059.1:n.-98dup
ENST00000307000.7:c.-245dup ENSP00000303500.2:n.-245dup
ENST00000546708.5:n.493-3dup
ENST00000546844.1:c.-95-3dup ENSP00000446658.1:n.-95-3dup
ENST00000547319.1:n.217-3dup
ENST00000551337.5:c.-95-3dup ENSP00000447620.1:n.-95-3dup
ENST00000553106.5:c.-98dup ENSP00000448059.1:n.-98dup
ENST00000635500.1:n.29-4330dup
NM_000277.1:c.-98dup NP_000268.1:n.-98dup
XM_011538422.1:c.-98dup XP_011536724.1:n.-98dup
NM_000277.2:c.-98dup NP_000268.1:n.-98dup
NM_001354304.1:c.-95-3dup NP_001341233.1:n.-95-3dup
XM_017019370.2:c.-98dup XP_016874859.1:n.-98dup
NM_000277.3:c.-98dup MANE Select NP_000268.1:n.-98dup
NM_001354304.2:c.-95-3dup NP_001341233.1:n.-95-3dup
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