Canonical Allele Identifier: CA413607683

Gene: BRWD3

Linked Data

• gnomAD v4: X-80745715-C-A
• MyVariant Identifiers: chrX:g.80001214C>A (hg19) ; chrX:g.80745715C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80745715C>A , CM000685.2:g.80745715C>A	GRCh38
NC_000023.10:g.80001214C>A , CM000685.1:g.80001214C>A	GRCh37
NC_000023.9:g.79887870C>A	NCBI36
NG_021349.1:g.69020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373275.5:c.445G>T MANE Select	ENSP00000362372.4:p.Ala149Ser
ENST00000373275.4:c.445G>T	ENSP00000362372.4:p.Ala149Ser
ENST00000478415.1:n.657G>T
NM_153252.4:c.445G>T	NP_694984.4:p.Ala149Ser
XM_005262113.2:c.445G>T	XP_005262170.1:p.Ala149Ser
XM_011530903.1:c.-69G>T	XP_011529205.1:n.-69G>T
XM_011530904.1:c.-892G>T	XP_011529206.1:n.-892G>T
XR_430519.2:n.708G>T
XM_005262113.3:c.445G>T	XP_005262170.1:p.Ala149Ser
XM_017029384.1:c.-892G>T	XP_016884873.1:n.-892G>T
XM_017029385.2:c.445G>T	XP_016884874.1:p.Ala149Ser
XR_430519.3:n.710G>T
NM_153252.5:c.445G>T MANE Select	NP_694984.5:p.Ala149Ser