Canonical Allele Identifier: CA517056374
Gene: BRWD3 HGNC NCBI

Linked Data

gnomAD v4: X-80745713-G-A
MyVariant Identifiers: chrX:g.80001212G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80745713G>A , CM000685.2:g.80745713G>A GRCh38
NC_000023.10:g.80001212G>A , CM000685.1:g.80001212G>A GRCh37
NC_000023.9:g.79887868G>A NCBI36
NG_021349.1:g.69022C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373275.5:c.447C>T MANE Select ENSP00000362372.4:p.Ala149=
ENST00000373275.4:c.447C>T ENSP00000362372.4:p.Ala149=
ENST00000478415.1:n.659C>T
NM_153252.4:c.447C>T NP_694984.4:p.Ala149=
XM_005262113.2:c.447C>T XP_005262170.1:p.Ala149=
XM_011530903.1:c.-67C>T XP_011529205.1:n.-67C>T
XM_011530904.1:c.-890C>T XP_011529206.1:n.-890C>T
XR_430519.2:n.710C>T
XM_005262113.3:c.447C>T XP_005262170.1:p.Ala149=
XM_017029384.1:c.-890C>T XP_016884873.1:n.-890C>T
XM_017029385.2:c.447C>T XP_016884874.1:p.Ala149=
XR_430519.3:n.712C>T
NM_153252.5:c.447C>T MANE Select NP_694984.5:p.Ala149=