Canonical Allele Identifier: CA407055217
Gene: CD33 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51225221C>A , CM000681.2:g.51225221C>A GRCh38
NC_000019.9:g.51728477C>A , CM000681.1:g.51728477C>A GRCh37
NC_000019.8:g.56420289C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262262.5:c.41C>A MANE Select ENSP00000262262.3:p.Ala14Asp
ENST00000262262.4:c.41C>A ENSP00000262262.3:p.Ala14Asp
ENST00000391796.7:c.41C>A ENSP00000375673.2:p.Ala14Asp
ENST00000421133.6:c.37+66C>A ENSP00000410126.1:n.37+66C>A
ENST00000436584.6:c.37+66C>A ENSP00000403331.2:n.37+66C>A
ENST00000601785.5:n.91C>A
NM_001082618.1:c.37+66C>A NP_001076087.1:n.37+66C>A
NM_001177608.1:c.41C>A NP_001171079.1:p.Ala14Asp
NM_001772.3:c.41C>A NP_001763.3:p.Ala14Asp
XM_011527531.1:c.203C>A XP_011525833.1:p.Ala68Asp
XM_011527532.1:c.41C>A XP_011525834.1:p.Ala14Asp
XR_935875.1:n.275C>A
XM_011527531.2:c.203C>A XP_011525833.1:p.Ala68Asp
XM_011527532.2:c.41C>A XP_011525834.1:p.Ala14Asp
XM_017027508.1:c.203C>A XP_016882997.1:p.Ala68Asp
XM_017027509.1:c.203C>A XP_016882998.1:p.Ala68Asp
XM_017027510.1:c.199+66C>A XP_016882999.1:n.199+66C>A
NM_001772.4:c.41C>A MANE Select NP_001763.3:p.Ala14Asp
NM_001082618.2:c.37+66C>A NP_001076087.1:n.37+66C>A
NM_001177608.2:c.41C>A NP_001171079.1:p.Ala14Asp