Canonical Allele Identifier: CA1344397620

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8734381T= , CM000665.2:g.8734381T=	GRCh38
NC_000003.11:g.8776067T= , CM000665.1:g.8776067T=	GRCh37
NC_000003.10:g.8751067T=	NCBI36
NG_008797.2:g.5572T= , LRG_329:g.5572T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+391T= (CAV3) MANE Select	ENSP00000341940.2:n.114+391T=
ENST00000343849.2:c.114+391T= (CAV3)	ENSP00000341940.2:n.114+391T=
ENST00000397368.2:c.114+391T= (CAV3)	ENSP00000380525.2:n.114+391T=
ENST00000435138.5:c.64+8078A= (SSUH2)	ENSP00000412333.1:n.64+8078A=
ENST00000472766.1:n.155+391T= (CAV3)
ENST00000478513.1:n.335+8078A= (SSUH2)
NM_001234.4:c.114+391T= (CAV3)	NP_001225.1:n.114+391T=
NM_033337.2:c.114+391T= , LRG_329t1:c.114+391T= (CAV3)	NP_203123.1:n.114+391T=
XR_940435.1:n.330+8078A= (SSUH2)
XM_017006530.1:c.-283+8078A= (SSUH2)	XP_016862019.1:n.-283+8078A=
NM_001234.5:c.114+391T= (CAV3)	NP_001225.1:n.114+391T=
NM_033337.3:c.114+391T= (CAV3) MANE Select	NP_203123.1:n.114+391T=