Canonical Allele Identifier: CA1344396322

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733830C= , CM000665.2:g.8733830C=	GRCh38
NC_000003.11:g.8775516C= , CM000665.1:g.8775516C=	GRCh37
NC_000003.10:g.8750516C=	NCBI36
NG_008797.2:g.5021C= , LRG_329:g.5021C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.-47C= (CAV3) MANE Select	ENSP00000341940.2:n.-47C=
ENST00000343849.2:c.-47C= (CAV3)	ENSP00000341940.2:n.-47C=
ENST00000435138.5:c.64+8629G= (SSUH2)	ENSP00000412333.1:n.64+8629G=
ENST00000478513.1:n.335+8629G= (SSUH2)
NM_001234.4:c.-47C= (CAV3)	NP_001225.1:n.-47C=
NM_033337.2:c.-47C= , LRG_329t1:c.-47C= (CAV3)	NP_203123.1:n.-47C=
XR_940435.1:n.330+8629G= (SSUH2)
XM_017006530.1:c.-283+8629G= (SSUH2)	XP_016862019.1:n.-283+8629G=
NM_001234.5:c.-47C= (CAV3)	NP_001225.1:n.-47C=
NM_033337.3:c.-47C= (CAV3) MANE Select	NP_203123.1:n.-47C=