Canonical Allele Identifier: CA9609811
Gene: CD33 HGNC NCBI
ClinVar RCV:
RCV001637186
ClinVar Variation:
1237638
dbSNP:
35112940
gnomAD v2:
19:51738917 G / A
gnomAD v3:
19:51235662 G / A
gnomAD v4:
chr19-51235662-G-A
Joint Max Group AF 0.21458411 (NFE)
Genomes Max Group AF 0.204373 (NFE)
Exomes Max Group AF 0.21505427 (NFE)
MyVariant.info:
GRCh38 chr19:g.51235662G>A
GRCh37 chr19:g.51738917G>A
Revel Score:
ENST00000436584 0.052
ENST00000262262 (MANE Select) 0.052
ENST00000421133 0.052
ENST00000391796 0.052
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51235662G>A , CM000681.2:g.51235662G>A GRCh38
NC_000019.9:g.51738917G>A , CM000681.1:g.51738917G>A GRCh37
NC_000019.8:g.56430729G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262262.5:c.910G>A MANE Select ENSP00000262262.3:p.Gly304Arg
ENST00000262262.4:c.910G>A ENSP00000262262.3:p.Gly304Arg
ENST00000391796.7:c.910G>A ENSP00000375673.2:p.Gly304Arg
ENST00000421133.6:c.529G>A ENSP00000410126.1:p.Gly177Arg
ENST00000436584.6:c.529G>A ENSP00000403331.2:p.Gly177Arg
ENST00000598473.1:n.281G>A
ENST00000601785.5:n.1037G>A
NM_001082618.1:c.529G>A NP_001076087.1:p.Gly177Arg
NM_001177608.1:c.910G>A NP_001171079.1:p.Gly304Arg
NM_001772.3:c.910G>A NP_001763.3:p.Gly304Arg
XM_011527531.1:c.1072G>A XP_011525833.1:p.Gly358Arg
XM_011527532.1:c.910G>A XP_011525834.1:p.Gly304Arg
XR_935875.1:n.1144G>A
XM_011527531.2:c.1072G>A XP_011525833.1:p.Gly358Arg
XM_011527532.2:c.910G>A XP_011525834.1:p.Gly304Arg
XM_017027508.1:c.1072G>A XP_016882997.1:p.Gly358Arg
XM_017027509.1:c.1024G>A XP_016882998.1:p.Gly342Arg
XM_017027510.1:c.691G>A XP_016882999.1:p.Gly231Arg
NM_001772.4:c.910G>A MANE Select NP_001763.3:p.Gly304Arg
NM_001082618.2:c.529G>A NP_001076087.1:p.Gly177Arg
NM_001177608.2:c.910G>A NP_001171079.1:p.Gly304Arg
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