Canonical Allele Identifier: CA351663346
Gene: CAV3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745643A>G , CM000665.2:g.8745643A>G GRCh38
NC_000003.11:g.8787329A>G , CM000665.1:g.8787329A>G GRCh37
NC_000003.10:g.8762329A>G NCBI36
NG_008797.2:g.16834A>G , LRG_329:g.16834A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.232A>G MANE Select ENSP00000341940.2:p.Thr78Ala
ENST00000343849.2:c.232A>G ENSP00000341940.2:p.Thr78Ala
ENST00000397368.2:c.232A>G ENSP00000380525.2:p.Thr78Ala
ENST00000472766.1:n.155+11653A>G
NM_001234.4:c.232A>G NP_001225.1:p.Thr78Ala
NM_033337.2:c.232A>G , LRG_329t1:c.232A>G NP_203123.1:p.Thr78Ala
NM_001234.5:c.232A>G NP_001225.1:p.Thr78Ala
NM_033337.3:c.232A>G MANE Select NP_203123.1:p.Thr78Ala