Canonical Allele Identifier: CA951234540

Gene: PAH

Linked Data

• gnomAD v3: 12-102851087-T-TAA
• gnomAD v4: 12-102851087-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851087_102851088insAA , CM000674.2:g.102851087_102851088insAA	GRCh38
NC_000012.11:g.103244865_103244866insAA , CM000674.1:g.103244865_103244866insAA	GRCh37
NC_000012.10:g.101768995_101768996insAA	NCBI36
NG_008690.1:g.71515_71516insTT
NG_008690.2:g.112323_112324insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+599_912+600insTT MANE Select	ENSP00000448059.1:n.912+599_912+600insTT
ENST00000307000.7:c.897+599_897+600insTT	ENSP00000303500.2:n.897+599_897+600insTT
ENST00000549247.6:n.671+599_671+600insTT
ENST00000551114.2:n.574+599_574+600insTT
ENST00000553106.5:c.912+599_912+600insTT	ENSP00000448059.1:n.912+599_912+600insTT
ENST00000635477.1:c.73+599_73+600insTT
NM_000277.1:c.912+599_912+600insTT	NP_000268.1:n.912+599_912+600insTT
XM_011538422.1:c.912+599_912+600insTT	XP_011536724.1:n.912+599_912+600insTT
NM_000277.2:c.912+599_912+600insTT	NP_000268.1:n.912+599_912+600insTT
NM_001354304.1:c.912+599_912+600insTT	NP_001341233.1:n.912+599_912+600insTT
NM_000277.3:c.912+599_912+600insTT MANE Select	NP_000268.1:n.912+599_912+600insTT
NM_001354304.2:c.912+599_912+600insTT	NP_001341233.1:n.912+599_912+600insTT