Canonical Allele Identifier: CA16817012
Community Standard Title: NM_022834.5(VWA1):c.1121G>A (p.Gly374Glu)
Gene: VWA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1439570G>A , CM000663.2:g.1439570G>A GRCh38
NC_000001.10:g.1374950G>A , CM000663.1:g.1374950G>A GRCh37
NC_000001.9:g.1364813G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_022834.5:c.1121G>A MANE Select NP_073745.2:p.Gly374Glu
ENST00000476993.2:c.1121G>A MANE Select ENSP00000417185.1:p.Gly374Glu
NM_022834.4:c.1121G>A NP_073745.2:p.Gly374Glu
NM_199121.2:c.*531G>A NP_954572.2:n.*531G>A
NM_199121.3:c.*531G>A NP_954572.2:n.*531G>A
ENST00000338660.5:c.*531G>A ENSP00000423404.1:n.*531G>A
ENST00000476993.1:c.1121G>A ENSP00000417185.1:p.Gly374Glu
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