Canonical Allele Identifier: CA2616576756
Gene: VWA5A HGNC NCBI

Linked Data

gnomAD v4: 11-124146712-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124146712G>A , CM000673.2:g.124146712G>A GRCh38
NC_000011.9:g.124017419G>A , CM000673.1:g.124017419G>A GRCh37
NC_000011.8:g.123522629G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000456829.7:c.*767G>A MANE Select ENSP00000407726.2:n.*767G>A
ENST00000392748.5:c.*767G>A ENSP00000376504.1:n.*767G>A
ENST00000456829.6:c.*767G>A ENSP00000407726.2:n.*767G>A
NM_001130142.1:c.*767G>A NP_001123614.1:n.*767G>A
NM_014622.4:c.*767G>A NP_055437.2:n.*767G>A
XM_011542828.1:c.*767G>A XP_011541130.1:n.*767G>A
XM_011542828.2:c.*767G>A XP_011541130.1:n.*767G>A
NM_001130142.2:c.*767G>A MANE Select NP_001123614.1:n.*767G>A
NM_014622.5:c.*767G>A NP_055437.2:n.*767G>A
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