Canonical Allele Identifier: CA410279889
Community Standard Title: NM_033656.4(BRWD1):c.523C>T (p.His175Tyr)
Gene: BRWD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.39295829G>A , CM000683.2:g.39295829G>A GRCh38
NC_000021.8:g.40667755G>A , CM000683.1:g.40667755G>A GRCh37
NC_000021.7:g.39589625G>A NCBI36
NG_029919.1:g.22958C>T
NG_029919.2:g.22958C>T

Transcript Alleles

HGVS Amino-acid Change
NM_033656.4:c.523C>T MANE Select NP_387505.1:p.His175Tyr
ENST00000342449.8:c.523C>T MANE Select ENSP00000344333.3:p.His175Tyr
NM_018963.4:c.523C>T NP_061836.2:p.His175Tyr
NM_018963.5:c.523C>T NP_061836.2:p.His175Tyr
NM_033656.3:c.523C>T NP_387505.1:p.His175Tyr
ENST00000333229.6:c.523C>T ENSP00000330753.2:p.His175Tyr
ENST00000342449.7:c.523C>T ENSP00000344333.3:p.His175Tyr
ENST00000380800.7:c.523C>T ENSP00000370178.3:p.His175Tyr
XM_011529611.1:c.523C>T XP_011527913.1:p.His175Tyr
XM_017028373.1:c.262C>T XP_016883862.1:p.His88Tyr
XM_017028375.1:c.523C>T XP_016883864.1:p.His175Tyr
XR_001754864.1:n.851C>T