Canonical Allele Identifier: CA413607669

Gene: BRWD3

Linked Data

• dbSNP Id: rs1368048177
• gnomAD v2: X-80001207-T-C
• gnomAD v3: X-80745708-T-C
• gnomAD v4: X-80745708-T-C
• MyVariant Identifiers: chrX:g.80001207T>C (hg19) ; chrX:g.80745708T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80745708T>C , CM000685.2:g.80745708T>C	GRCh38
NC_000023.10:g.80001207T>C , CM000685.1:g.80001207T>C	GRCh37
NC_000023.9:g.79887863T>C	NCBI36
NG_021349.1:g.69027A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373275.5:c.452A>G MANE Select	ENSP00000362372.4:p.Gln151Arg
ENST00000373275.4:c.452A>G	ENSP00000362372.4:p.Gln151Arg
ENST00000478415.1:n.664A>G
NM_153252.4:c.452A>G	NP_694984.4:p.Gln151Arg
XM_005262113.2:c.452A>G	XP_005262170.1:p.Gln151Arg
XM_011530903.1:c.-62A>G	XP_011529205.1:n.-62A>G
XM_011530904.1:c.-885A>G	XP_011529206.1:n.-885A>G
XR_430519.2:n.715A>G
XM_005262113.3:c.452A>G	XP_005262170.1:p.Gln151Arg
XM_017029384.1:c.-885A>G	XP_016884873.1:n.-885A>G
XM_017029385.2:c.452A>G	XP_016884874.1:p.Gln151Arg
XR_430519.3:n.717A>G
NM_153252.5:c.452A>G MANE Select	NP_694984.5:p.Gln151Arg