Canonical Allele Identifier: CA413607458

Gene: BRWD3

Linked Data

• MyVariant Identifiers: chrX:g.80001120A>C (hg19) ; chrX:g.80745621A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80745621A>C , CM000685.2:g.80745621A>C	GRCh38
NC_000023.10:g.80001120A>C , CM000685.1:g.80001120A>C	GRCh37
NC_000023.9:g.79887776A>C	NCBI36
NG_021349.1:g.69114T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373275.5:c.539T>G MANE Select	ENSP00000362372.4:p.Leu180Trp
ENST00000373275.4:c.539T>G	ENSP00000362372.4:p.Leu180Trp
ENST00000478415.1:n.751T>G
NM_153252.4:c.539T>G	NP_694984.4:p.Leu180Trp
XM_005262113.2:c.539T>G	XP_005262170.1:p.Leu180Trp
XM_011530903.1:c.26T>G	XP_011529205.1:p.Leu9Trp
XM_011530904.1:c.-798T>G	XP_011529206.1:n.-798T>G
XR_430519.2:n.802T>G
XM_005262113.3:c.539T>G	XP_005262170.1:p.Leu180Trp
XM_017029384.1:c.-798T>G	XP_016884873.1:n.-798T>G
XM_017029385.2:c.539T>G	XP_016884874.1:p.Leu180Trp
XR_430519.3:n.804T>G
NM_153252.5:c.539T>G MANE Select	NP_694984.5:p.Leu180Trp