Canonical Allele Identifier: CA517056400

Gene: BRWD3

Linked Data

• dbSNP Id: rs2073583186
• gnomAD v4: X-80745728-C-T
• MyVariant Identifiers: chrX:g.80001227C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80745728C>T , CM000685.2:g.80745728C>T	GRCh38
NC_000023.10:g.80001227C>T , CM000685.1:g.80001227C>T	GRCh37
NC_000023.9:g.79887883C>T	NCBI36
NG_021349.1:g.69007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373275.5:c.432G>A MANE Select	ENSP00000362372.4:p.Val144=
ENST00000373275.4:c.432G>A	ENSP00000362372.4:p.Val144=
ENST00000478415.1:n.644G>A
NM_153252.4:c.432G>A	NP_694984.4:p.Val144=
XM_005262113.2:c.432G>A	XP_005262170.1:p.Val144=
XM_011530903.1:c.-82G>A	XP_011529205.1:n.-82G>A
XM_011530904.1:c.-905G>A	XP_011529206.1:n.-905G>A
XR_430519.2:n.695G>A
XM_005262113.3:c.432G>A	XP_005262170.1:p.Val144=
XM_017029384.1:c.-905G>A	XP_016884873.1:n.-905G>A
XM_017029385.2:c.432G>A	XP_016884874.1:p.Val144=
XR_430519.3:n.697G>A
NM_153252.5:c.432G>A MANE Select	NP_694984.5:p.Val144=