Canonical Allele Identifier: CA413607713

Gene: BRWD3

Linked Data

• gnomAD v4: X-80745729-A-G
• MyVariant Identifiers: chrX:g.80001228A>G (hg19) ; chrX:g.80745729A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80745729A>G , CM000685.2:g.80745729A>G	GRCh38
NC_000023.10:g.80001228A>G , CM000685.1:g.80001228A>G	GRCh37
NC_000023.9:g.79887884A>G	NCBI36
NG_021349.1:g.69006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373275.5:c.431T>C MANE Select	ENSP00000362372.4:p.Val144Ala
ENST00000373275.4:c.431T>C	ENSP00000362372.4:p.Val144Ala
ENST00000478415.1:n.643T>C
NM_153252.4:c.431T>C	NP_694984.4:p.Val144Ala
XM_005262113.2:c.431T>C	XP_005262170.1:p.Val144Ala
XM_011530903.1:c.-83T>C	XP_011529205.1:n.-83T>C
XM_011530904.1:c.-906T>C	XP_011529206.1:n.-906T>C
XR_430519.2:n.694T>C
XM_005262113.3:c.431T>C	XP_005262170.1:p.Val144Ala
XM_017029384.1:c.-906T>C	XP_016884873.1:n.-906T>C
XM_017029385.2:c.431T>C	XP_016884874.1:p.Val144Ala
XR_430519.3:n.696T>C
NM_153252.5:c.431T>C MANE Select	NP_694984.5:p.Val144Ala