Canonical Allele Identifier: CA2620515755

Gene: PAH

Linked Data

• gnomAD v4: 12-102853031-A-AGTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102853032_102853035dup , CM000674.2:g.102853032_102853035dup	GRCh38
NC_000012.11:g.103246810_103246813dup , CM000674.1:g.103246810_103246813dup	GRCh37
NC_000012.10:g.101770940_101770943dup	NCBI36
NG_008690.1:g.69568_69571dup
NG_008690.2:g.110376_110379dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.707-85_707-82dup MANE Select	ENSP00000448059.1:n.707-85_707-82dup
ENST00000307000.7:c.692-85_692-82dup	ENSP00000303500.2:n.692-85_692-82dup
ENST00000549247.6:n.381_384dup
ENST00000553106.5:c.707-85_707-82dup	ENSP00000448059.1:n.707-85_707-82dup
NM_000277.1:c.707-85_707-82dup	NP_000268.1:n.707-85_707-82dup
XM_011538422.1:c.707-85_707-82dup	XP_011536724.1:n.707-85_707-82dup
NM_000277.2:c.707-85_707-82dup	NP_000268.1:n.707-85_707-82dup
NM_001354304.1:c.707-85_707-82dup	NP_001341233.1:n.707-85_707-82dup
NM_000277.3:c.707-85_707-82dup MANE Select	NP_000268.1:n.707-85_707-82dup
NM_001354304.2:c.707-85_707-82dup	NP_001341233.1:n.707-85_707-82dup