Canonical Allele Identifier: CA10652047

Gene: BRWD3

Linked Data

• ClinVar Variation Id: 368684
• ClinVar RCV Id: RCV000398724
• dbSNP Id: rs1057515994
• gnomAD v3: X-80670412-A-G
• gnomAD v4: X-80670412-A-G
• MyVariant Identifiers: chrX:g.79925911A>G (hg19) ; chrX:g.80670412A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80670412A>G , CM000685.2:g.80670412A>G	GRCh38
NC_000023.10:g.79925911A>G , CM000685.1:g.79925911A>G	GRCh37
NC_000023.9:g.79812567A>G	NCBI36
NG_021349.1:g.144323T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373275.5:c.*6197T>C MANE Select	ENSP00000362372.4:n.*6197T>C
NM_153252.4:c.*6197T>C	NP_694984.4:n.*6197T>C
XM_005262113.2:c.*6197T>C	XP_005262170.1:n.*6197T>C
XM_011530903.1:c.*6197T>C	XP_011529205.1:n.*6197T>C
XM_011530904.1:c.*6197T>C	XP_011529206.1:n.*6197T>C
XM_005262113.3:c.*6197T>C	XP_005262170.1:n.*6197T>C
NM_153252.5:c.*6197T>C MANE Select	NP_694984.5:n.*6197T>C