Canonical Allele Identifier: CA1344396369

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733846A= , CM000665.2:g.8733846A= GRCh38
NC_000003.11:g.8775532A= , CM000665.1:g.8775532A= GRCh37
NC_000003.10:g.8750532A= NCBI36
NG_008797.2:g.5037A= , LRG_329:g.5037A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.-31A= (CAV3) MANE Select ENSP00000341940.2:n.-31A=
ENST00000343849.2:c.-31A= (CAV3) ENSP00000341940.2:n.-31A=
ENST00000435138.5:c.64+8613T= (SSUH2) ENSP00000412333.1:n.64+8613T=
ENST00000472766.1:n.11A= (CAV3)
ENST00000478513.1:n.335+8613T= (SSUH2)
NM_001234.4:c.-31A= (CAV3) NP_001225.1:n.-31A=
NM_033337.2:c.-31A= , LRG_329t1:c.-31A= (CAV3) NP_203123.1:n.-31A=
XR_940435.1:n.330+8613T= (SSUH2)
XM_017006530.1:c.-283+8613T= (SSUH2) XP_016862019.1:n.-283+8613T=
NM_001234.5:c.-31A= (CAV3) NP_001225.1:n.-31A=
NM_033337.3:c.-31A= (CAV3) MANE Select NP_203123.1:n.-31A=