Canonical Allele Identifier: CA16020737

Gene: PAH

Linked Data

• ClinVar Variation Id: 805812
• ClinVar RCV Id: RCV000993629
• dbSNP Id: rs1592978992
• ERepo: CA16020737/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894904del , CM000674.2:g.102894904del	GRCh38
NC_000012.11:g.103288682del , CM000674.1:g.103288682del	GRCh37
NC_000012.10:g.101812812del	NCBI36
NG_008690.1:g.27700del
NG_008690.2:g.68508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.184del MANE Select	ENSP00000448059.1:p.Leu62Ter
ENST00000307000.7:c.169del	ENSP00000303500.2:p.Leu57Ter
ENST00000546844.1:c.184del	ENSP00000446658.1:p.Leu62Ter
ENST00000548677.2:n.271del
ENST00000548928.1:n.106del
ENST00000549111.5:n.280del
ENST00000550978.6:c.168del
ENST00000551337.5:c.184del	ENSP00000447620.1:p.Leu62Ter
ENST00000551988.5:n.273del
ENST00000553106.5:c.184del	ENSP00000448059.1:p.Leu62Ter
ENST00000635500.1:n.152del
NM_000277.1:c.184del	NP_000268.1:p.Leu62Ter
XM_011538422.1:c.184del	XP_011536724.1:p.Leu62Ter
NM_000277.2:c.184del	NP_000268.1:p.Leu62Ter
NM_001354304.1:c.184del	NP_001341233.1:p.Leu62Ter
XM_017019370.2:c.184del	XP_016874859.1:p.Leu62Ter
NM_000277.3:c.184del MANE Select	NP_000268.1:p.Leu62Ter
NM_001354304.2:c.184del	NP_001341233.1:p.Leu62Ter