Canonical Allele Identifier: CA10027699
Community Standard Title: NM_033656.4(BRWD1):c.656G>A (p.Arg219His)
Gene: BRWD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.39293986C>T , CM000683.2:g.39293986C>T GRCh38
NC_000021.8:g.40665912C>T , CM000683.1:g.40665912C>T GRCh37
NC_000021.7:g.39587782C>T NCBI36
NG_029919.1:g.24801G>A
NG_029919.2:g.24801G>A

Transcript Alleles

HGVS Amino-acid Change
NM_033656.4:c.656G>A MANE Select NP_387505.1:p.Arg219His
ENST00000342449.8:c.656G>A MANE Select ENSP00000344333.3:p.Arg219His
NM_018963.4:c.656G>A NP_061836.2:p.Arg219His
NM_018963.5:c.656G>A NP_061836.2:p.Arg219His
NM_033656.3:c.656G>A NP_387505.1:p.Arg219His
ENST00000333229.6:c.656G>A ENSP00000330753.2:p.Arg219His
ENST00000342449.7:c.656G>A ENSP00000344333.3:p.Arg219His
ENST00000380800.7:c.656G>A ENSP00000370178.3:p.Arg219His
XM_011529611.1:c.656G>A XP_011527913.1:p.Arg219His
XM_017028373.1:c.395G>A XP_016883862.1:p.Arg132His
XM_017028375.1:c.656G>A XP_016883864.1:p.Arg219His
XR_001754864.1:n.984G>A