Canonical Allele Identifier: CA379352337
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319432A>T , CM000673.2:g.6319432A>T GRCh38
NC_000011.9:g.6340662A>T , CM000673.1:g.6340662A>T GRCh37
NC_000011.8:g.6297238A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.517T>A MANE Select ENSP00000307292.3:p.Ser173Thr
ENST00000303927.3:c.517T>A ENSP00000307292.3:p.Ser173Thr
ENST00000524852.1:n.303T>A
ENST00000530979.1:c.613T>A ENSP00000432047.1:p.Ser205Thr
ENST00000532354.1:n.539T>A
NM_145040.2:c.517T>A NP_659477.2:p.Ser173Thr
XR_930997.1:n.720+1212A>T
XR_001748106.1:n.43A>T
XR_242848.4:n.292A>T
NM_145040.3:c.517T>A MANE Select NP_659477.2:p.Ser173Thr