Canonical Allele Identifier: CA2616576757
Gene: VWA5A HGNC NCBI

Linked Data

gnomAD v4: 11-124146713-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124146713G>T , CM000673.2:g.124146713G>T GRCh38
NC_000011.9:g.124017420G>T , CM000673.1:g.124017420G>T GRCh37
NC_000011.8:g.123522630G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000456829.7:c.*768G>T MANE Select ENSP00000407726.2:n.*768G>T
ENST00000392748.5:c.*768G>T ENSP00000376504.1:n.*768G>T
ENST00000456829.6:c.*768G>T ENSP00000407726.2:n.*768G>T
NM_001130142.1:c.*768G>T NP_001123614.1:n.*768G>T
NM_014622.4:c.*768G>T NP_055437.2:n.*768G>T
XM_011542828.1:c.*768G>T XP_011541130.1:n.*768G>T
XM_011542828.2:c.*768G>T XP_011541130.1:n.*768G>T
NM_001130142.2:c.*768G>T MANE Select NP_001123614.1:n.*768G>T
NM_014622.5:c.*768G>T NP_055437.2:n.*768G>T
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