Canonical Allele Identifier: CA2755143813

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8742261T>C , CM000665.2:g.8742261T>C	GRCh38
NC_000003.11:g.8783947T>C , CM000665.1:g.8783947T>C	GRCh37
NC_000003.10:g.8758947T>C	NCBI36
NG_008797.2:g.13452T>C , LRG_329:g.13452T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.115-3265T>C (CAV3) MANE Select	ENSP00000341940.2:n.115-3265T>C
ENST00000343849.2:c.115-3265T>C (CAV3)	ENSP00000341940.2:n.115-3265T>C
ENST00000397368.2:c.115-3265T>C (CAV3)	ENSP00000380525.2:n.115-3265T>C
ENST00000435138.5:c.64+198A>G (SSUH2)	ENSP00000412333.1:n.64+198A>G
ENST00000472766.1:n.155+8271T>C (CAV3)
ENST00000478513.1:n.335+198A>G (SSUH2)
NM_001234.4:c.115-3265T>C (CAV3)	NP_001225.1:n.115-3265T>C
NM_033337.2:c.115-3265T>C , LRG_329t1:c.115-3265T>C (CAV3)	NP_203123.1:n.115-3265T>C
XR_940435.1:n.330+198A>G (SSUH2)
XM_017006530.1:c.-283+198A>G (SSUH2)	XP_016862019.1:n.-283+198A>G
NM_001234.5:c.115-3265T>C (CAV3)	NP_001225.1:n.115-3265T>C
NM_033337.3:c.115-3265T>C (CAV3) MANE Select	NP_203123.1:n.115-3265T>C