Canonical Allele Identifier: CA407060818
Gene: CD33 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

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