Canonical Allele Identifier: CA13401092
Gene: VWA5A HGNC NCBI
gnomAD v2:
11:124017493 G / A
gnomAD v3:
11:124146786 G / A
gnomAD v4:
chr11-124146786-G-A
Joint Max Group AF 0.44801825 (EAS)
Genomes Max Group AF 0.44801825 (EAS)
Exomes Max Group AF 0.06567131 (NFE)
dbSNP:
4936894
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124146786G>A , CM000673.2:g.124146786G>A GRCh38
NC_000011.9:g.124017493G>A , CM000673.1:g.124017493G>A GRCh37
NC_000011.8:g.123522703G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000456829.7:c.*841G>A MANE Select ENSP00000407726.2:n.*841G>A
ENST00000392748.5:c.*841G>A ENSP00000376504.1:n.*841G>A
ENST00000456829.6:c.*841G>A ENSP00000407726.2:n.*841G>A
NM_001130142.1:c.*841G>A NP_001123614.1:n.*841G>A
NM_014622.4:c.*841G>A NP_055437.2:n.*841G>A
XM_011542828.1:c.*841G>A XP_011541130.1:n.*841G>A
XM_011542828.2:c.*841G>A XP_011541130.1:n.*841G>A
NM_001130142.2:c.*841G>A MANE Select NP_001123614.1:n.*841G>A
NM_014622.5:c.*841G>A NP_055437.2:n.*841G>A
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