Canonical Allele Identifier: CA331093728

Gene: BRWD3

Linked Data

• dbSNP Id: rs756775207
• gnomAD v3: X-80745789-G-A
• gnomAD v4: X-80745789-G-A
• MyVariant Identifiers: chrX:g.80001288G>A (hg19) ; chrX:g.80745789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80745789G>A , CM000685.2:g.80745789G>A	GRCh38
NC_000023.10:g.80001288G>A , CM000685.1:g.80001288G>A	GRCh37
NC_000023.9:g.79887944G>A	NCBI36
NG_021349.1:g.68946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373275.5:c.431-60C>T MANE Select	ENSP00000362372.4:n.431-60C>T
ENST00000373275.4:c.431-60C>T	ENSP00000362372.4:n.431-60C>T
ENST00000478415.1:n.643-60C>T
NM_153252.4:c.431-60C>T	NP_694984.4:n.431-60C>T
XM_005262113.2:c.431-60C>T	XP_005262170.1:n.431-60C>T
XM_011530903.1:c.-83-60C>T	XP_011529205.1:n.-83-60C>T
XM_011530904.1:c.-906-60C>T	XP_011529206.1:n.-906-60C>T
XR_430519.2:n.694-60C>T
XM_005262113.3:c.431-60C>T	XP_005262170.1:n.431-60C>T
XM_017029384.1:c.-906-60C>T	XP_016884873.1:n.-906-60C>T
XM_017029385.2:c.431-60C>T	XP_016884874.1:n.431-60C>T
XR_430519.3:n.696-60C>T
NM_153252.5:c.431-60C>T MANE Select	NP_694984.5:n.431-60C>T