Canonical Allele Identifier: CA2620527031

Gene: PAH

Linked Data

• gnomAD v4: 12-102840599-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840605dup , CM000674.2:g.102840605dup	GRCh38
NC_000012.11:g.103234383dup , CM000674.1:g.103234383dup	GRCh37
NC_000012.10:g.101758513dup	NCBI36
NG_008690.1:g.82003dup
NG_008690.2:g.122811dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1200-85dup MANE Select	ENSP00000448059.1:n.1200-85dup
ENST00000307000.7:c.1185-85dup	ENSP00000303500.2:n.1185-85dup
ENST00000549247.6:n.959-85dup
ENST00000551114.2:n.862-85dup
ENST00000553106.5:c.1200-85dup	ENSP00000448059.1:n.1200-85dup
ENST00000635477.1:c.304-85dup
ENST00000635528.1:n.715-85dup
NM_000277.1:c.1200-85dup	NP_000268.1:n.1200-85dup
XM_011538422.1:c.1143-85dup	XP_011536724.1:n.1143-85dup
NM_000277.2:c.1200-85dup	NP_000268.1:n.1200-85dup
NM_001354304.1:c.1200-85dup	NP_001341233.1:n.1200-85dup
NM_000277.3:c.1200-85dup MANE Select	NP_000268.1:n.1200-85dup
NM_001354304.2:c.1200-85dup	NP_001341233.1:n.1200-85dup