Canonical Allele Identifier: CA2059443453

Gene: PAH

Linked Data

• dbSNP Id: rs1875125075

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851089_102851090insCA , CM000674.2:g.102851089_102851090insCA	GRCh38
NC_000012.11:g.103244867_103244868insCA , CM000674.1:g.103244867_103244868insCA	GRCh37
NC_000012.10:g.101768997_101768998insCA	NCBI36
NG_008690.1:g.71514_71515insGT
NG_008690.2:g.112322_112323insGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.912+598_912+599insGT MANE Select	ENSP00000448059.1:n.912+598_912+599insGT
ENST00000307000.7:c.897+598_897+599insGT	ENSP00000303500.2:n.897+598_897+599insGT
ENST00000549247.6:n.671+598_671+599insGT
ENST00000551114.2:n.574+598_574+599insGT
ENST00000553106.5:c.912+598_912+599insGT	ENSP00000448059.1:n.912+598_912+599insGT
ENST00000635477.1:c.73+598_73+599insGT
NM_000277.1:c.912+598_912+599insGT	NP_000268.1:n.912+598_912+599insGT
XM_011538422.1:c.912+598_912+599insGT	XP_011536724.1:n.912+598_912+599insGT
NM_000277.2:c.912+598_912+599insGT	NP_000268.1:n.912+598_912+599insGT
NM_001354304.1:c.912+598_912+599insGT	NP_001341233.1:n.912+598_912+599insGT
NM_000277.3:c.912+598_912+599insGT MANE Select	NP_000268.1:n.912+598_912+599insGT
NM_001354304.2:c.912+598_912+599insGT	NP_001341233.1:n.912+598_912+599insGT