Canonical Allele Identifier: CA320526453

Gene: BRWD1

Linked Data

• dbSNP Id: rs2150410
• gnomAD v2: 21-40569779-G-A
• gnomAD v3: 21-39197853-G-A
• gnomAD v4: 21-39197853-G-A
• MyVariant Identifiers: chr21:g.40569779G>A (hg19) ; chr21:g.39197853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.39197853G>A , CM000683.2:g.39197853G>A	GRCh38
NC_000021.8:g.40569779G>A , CM000683.1:g.40569779G>A	GRCh37
NC_000021.7:g.39491649G>A	NCBI36
NG_029919.1:g.120934C>T
NG_029919.2:g.120934C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342449.8:c.5654-438C>T MANE Select	ENSP00000344333.3:n.5654-438C>T
ENST00000333229.6:c.5654-438C>T	ENSP00000330753.2:n.5654-438C>T
ENST00000342449.7:c.5654-438C>T	ENSP00000344333.3:n.5654-438C>T
ENST00000380800.7:c.5654-438C>T	ENSP00000370178.3:n.5654-438C>T
ENST00000446924.5:c.3901-438C>T	ENSP00000391014.1:n.3901-438C>T
NM_018963.4:c.5654-438C>T	NP_061836.2:n.5654-438C>T
NM_033656.3:c.5654-438C>T	NP_387505.1:n.5654-438C>T
XM_011529611.1:c.5510-438C>T	XP_011527913.1:n.5510-438C>T
XM_011529612.1:c.4814-438C>T	XP_011527914.1:n.4814-438C>T
XM_011529613.1:c.2687-438C>T	XP_011527915.1:n.2687-438C>T
XM_011529612.2:c.4814-438C>T	XP_011527914.1:n.4814-438C>T
XM_017028373.1:c.5393-438C>T	XP_016883862.1:n.5393-438C>T
XM_017028374.1:c.2687-438C>T	XP_016883863.1:n.2687-438C>T
NM_018963.5:c.5654-438C>T	NP_061836.2:n.5654-438C>T
NM_033656.4:c.5654-438C>T MANE Select	NP_387505.1:n.5654-438C>T