Canonical Allele Identifier: CA10462363

Gene: BRWD3

Linked Data

• ClinVar Variation Id: 1895620
• ClinVar RCV Id: RCV002571712
• dbSNP Id: rs372073630
• ExAC: X:80001241 C / T
• gnomAD v2: X-80001241-C-T
• gnomAD v3: X-80745742-C-T
• gnomAD v4: X-80745742-C-T
• MyVariant Identifiers: chrX:g.80001241C>T (hg19) ; chrX:g.80745742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80745742C>T , CM000685.2:g.80745742C>T	GRCh38
NC_000023.10:g.80001241C>T , CM000685.1:g.80001241C>T	GRCh37
NC_000023.9:g.79887897C>T	NCBI36
NG_021349.1:g.68993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373275.5:c.431-13G>A MANE Select	ENSP00000362372.4:n.431-13G>A
ENST00000373275.4:c.431-13G>A	ENSP00000362372.4:n.431-13G>A
ENST00000478415.1:n.643-13G>A
NM_153252.4:c.431-13G>A	NP_694984.4:n.431-13G>A
XM_005262113.2:c.431-13G>A	XP_005262170.1:n.431-13G>A
XM_011530903.1:c.-83-13G>A	XP_011529205.1:n.-83-13G>A
XM_011530904.1:c.-906-13G>A	XP_011529206.1:n.-906-13G>A
XR_430519.2:n.694-13G>A
XM_005262113.3:c.431-13G>A	XP_005262170.1:n.431-13G>A
XM_017029384.1:c.-906-13G>A	XP_016884873.1:n.-906-13G>A
XM_017029385.2:c.431-13G>A	XP_016884874.1:n.431-13G>A
XR_430519.3:n.696-13G>A
NM_153252.5:c.431-13G>A MANE Select	NP_694984.5:n.431-13G>A