Canonical Allele Identifier: CA10462356

Gene: BRWD3

Linked Data

• dbSNP Id: rs752898370
• ExAC: X:80001213 G / A
• gnomAD v2: X-80001213-G-A
• gnomAD v4: X-80745714-G-A
• COSMIC: COSM3992591
• MyVariant Identifiers: chrX:g.80001213G>A (hg19) ; chrX:g.80745714G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80745714G>A , CM000685.2:g.80745714G>A	GRCh38
NC_000023.10:g.80001213G>A , CM000685.1:g.80001213G>A	GRCh37
NC_000023.9:g.79887869G>A	NCBI36
NG_021349.1:g.69021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373275.5:c.446C>T MANE Select	ENSP00000362372.4:p.Ala149Val
ENST00000373275.4:c.446C>T	ENSP00000362372.4:p.Ala149Val
ENST00000478415.1:n.658C>T
NM_153252.4:c.446C>T	NP_694984.4:p.Ala149Val
XM_005262113.2:c.446C>T	XP_005262170.1:p.Ala149Val
XM_011530903.1:c.-68C>T	XP_011529205.1:n.-68C>T
XM_011530904.1:c.-891C>T	XP_011529206.1:n.-891C>T
XR_430519.2:n.709C>T
XM_005262113.3:c.446C>T	XP_005262170.1:p.Ala149Val
XM_017029384.1:c.-891C>T	XP_016884873.1:n.-891C>T
XM_017029385.2:c.446C>T	XP_016884874.1:p.Ala149Val
XR_430519.3:n.711C>T
NM_153252.5:c.446C>T MANE Select	NP_694984.5:p.Ala149Val