Canonical Allele Identifier: CA413607343

Gene: BRWD3

Linked Data

• MyVariant Identifiers: chrX:g.80001088T>G (hg19) ; chrX:g.80745589T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80745589T>G , CM000685.2:g.80745589T>G	GRCh38
NC_000023.10:g.80001088T>G , CM000685.1:g.80001088T>G	GRCh37
NC_000023.9:g.79887744T>G	NCBI36
NG_021349.1:g.69146A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373275.5:c.571A>C MANE Select	ENSP00000362372.4:p.Ser191Arg
ENST00000373275.4:c.571A>C	ENSP00000362372.4:p.Ser191Arg
ENST00000478415.1:n.783A>C
NM_153252.4:c.571A>C	NP_694984.4:p.Ser191Arg
XM_005262113.2:c.571A>C	XP_005262170.1:p.Ser191Arg
XM_011530903.1:c.58A>C	XP_011529205.1:p.Ser20Arg
XM_011530904.1:c.-766A>C	XP_011529206.1:n.-766A>C
XR_430519.2:n.834A>C
XM_005262113.3:c.571A>C	XP_005262170.1:p.Ser191Arg
XM_017029384.1:c.-766A>C	XP_016884873.1:n.-766A>C
XM_017029385.2:c.571A>C	XP_016884874.1:p.Ser191Arg
XR_430519.3:n.836A>C
NM_153252.5:c.571A>C MANE Select	NP_694984.5:p.Ser191Arg