Canonical Allele Identifier: CA2616576748
Gene: VWA5A HGNC NCBI

Linked Data

gnomAD v4: 11-124146691-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124146691A>G , CM000673.2:g.124146691A>G GRCh38
NC_000011.9:g.124017398A>G , CM000673.1:g.124017398A>G GRCh37
NC_000011.8:g.123522608A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000456829.7:c.*746A>G MANE Select ENSP00000407726.2:n.*746A>G
ENST00000392748.5:c.*746A>G ENSP00000376504.1:n.*746A>G
ENST00000456829.6:c.*746A>G ENSP00000407726.2:n.*746A>G
NM_001130142.1:c.*746A>G NP_001123614.1:n.*746A>G
NM_014622.4:c.*746A>G NP_055437.2:n.*746A>G
XM_011542828.1:c.*746A>G XP_011541130.1:n.*746A>G
XM_011542828.2:c.*746A>G XP_011541130.1:n.*746A>G
NM_001130142.2:c.*746A>G MANE Select NP_001123614.1:n.*746A>G
NM_014622.5:c.*746A>G NP_055437.2:n.*746A>G
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