Canonical Allele Identifier: CA10616763
Community Standard Title: NM_033337.3(CAV3):c.*592G>A
Gene: CAV3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8746459G>A , CM000665.2:g.8746459G>A GRCh38
NC_000003.11:g.8788145G>A , CM000665.1:g.8788145G>A GRCh37
NC_000003.10:g.8763145G>A NCBI36
NG_008797.2:g.17650G>A , LRG_329:g.17650G>A

Transcript Alleles

HGVS Amino-acid Change
NM_033337.3:c.*592G>A MANE Select NP_203123.1:n.*592G>A
ENST00000343849.3:c.*592G>A MANE Select ENSP00000341940.2:n.*592G>A
NM_001234.4:c.*496G>A NP_001225.1:n.*496G>A
NM_001234.5:c.*496G>A NP_001225.1:n.*496G>A
NM_033337.2:c.*592G>A , LRG_329t1:c.*592G>A NP_203123.1:n.*592G>A
ENST00000343849.2:c.*592G>A ENSP00000341940.2:n.*592G>A
ENST00000397368.2:c.*496G>A ENSP00000380525.2:n.*496G>A
ENST00000472766.1:n.155+12469G>A
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