Canonical Allele Identifier: CA2726712269

Gene: PAH

Linked Data

• dbSNP Id: rs72529310

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844550_102844555dup , CM000674.2:g.102844550_102844555dup	GRCh38
NC_000012.11:g.103238328_103238333dup , CM000674.1:g.103238328_103238333dup	GRCh37
NC_000012.10:g.101762458_101762463dup	NCBI36
NG_008690.1:g.78056_78061dup
NG_008690.2:g.118864_118869dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-116_970-111dup MANE Select	ENSP00000448059.1:n.970-116_970-111dup
ENST00000307000.7:c.955-116_955-111dup	ENSP00000303500.2:n.955-116_955-111dup
ENST00000549247.6:n.729-116_729-111dup
ENST00000551114.2:n.632-116_632-111dup
ENST00000553106.5:c.970-116_970-111dup	ENSP00000448059.1:n.970-116_970-111dup
ENST00000635477.1:c.74-116_74-111dup
ENST00000635528.1:n.485-116_485-111dup
NM_000277.1:c.970-116_970-111dup	NP_000268.1:n.970-116_970-111dup
XM_011538422.1:c.913-116_913-111dup	XP_011536724.1:n.913-116_913-111dup
NM_000277.2:c.970-116_970-111dup	NP_000268.1:n.970-116_970-111dup
NM_001354304.1:c.970-116_970-111dup	NP_001341233.1:n.970-116_970-111dup
NM_000277.3:c.970-116_970-111dup MANE Select	NP_000268.1:n.970-116_970-111dup
NM_001354304.2:c.970-116_970-111dup	NP_001341233.1:n.970-116_970-111dup