Canonical Allele Identifier: CA413607638

Gene: BRWD3

Linked Data

• gnomAD v4: X-80745693-C-T
• MyVariant Identifiers: chrX:g.80001192C>T (hg19) ; chrX:g.80745693C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80745693C>T , CM000685.2:g.80745693C>T	GRCh38
NC_000023.10:g.80001192C>T , CM000685.1:g.80001192C>T	GRCh37
NC_000023.9:g.79887848C>T	NCBI36
NG_021349.1:g.69042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373275.5:c.467G>A MANE Select	ENSP00000362372.4:p.Ser156Asn
ENST00000373275.4:c.467G>A	ENSP00000362372.4:p.Ser156Asn
ENST00000478415.1:n.679G>A
NM_153252.4:c.467G>A	NP_694984.4:p.Ser156Asn
XM_005262113.2:c.467G>A	XP_005262170.1:p.Ser156Asn
XM_011530903.1:c.-47G>A	XP_011529205.1:n.-47G>A
XM_011530904.1:c.-870G>A	XP_011529206.1:n.-870G>A
XR_430519.2:n.730G>A
XM_005262113.3:c.467G>A	XP_005262170.1:p.Ser156Asn
XM_017029384.1:c.-870G>A	XP_016884873.1:n.-870G>A
XM_017029385.2:c.467G>A	XP_016884874.1:p.Ser156Asn
XR_430519.3:n.732G>A
NM_153252.5:c.467G>A MANE Select	NP_694984.5:p.Ser156Asn