Canonical Allele Identifier: CA351663192
Gene: CAV3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745568A>C , CM000665.2:g.8745568A>C GRCh38
NC_000003.11:g.8787254A>C , CM000665.1:g.8787254A>C GRCh37
NC_000003.10:g.8762254A>C NCBI36
NG_008797.2:g.16759A>C , LRG_329:g.16759A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.157A>C MANE Select ENSP00000341940.2:p.Ser53Arg
ENST00000343849.2:c.157A>C ENSP00000341940.2:p.Ser53Arg
ENST00000397368.2:c.157A>C ENSP00000380525.2:p.Ser53Arg
ENST00000472766.1:n.155+11578A>C
NM_001234.4:c.157A>C NP_001225.1:p.Ser53Arg
NM_033337.2:c.157A>C , LRG_329t1:c.157A>C NP_203123.1:p.Ser53Arg
NM_001234.5:c.157A>C NP_001225.1:p.Ser53Arg
NM_033337.3:c.157A>C MANE Select NP_203123.1:p.Ser53Arg