Canonical Allele Identifier: CA2341288499
Community Standard Title: NM_001772.4(CD33):c.41C= (p.Ala14=)
Gene: CD33 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001772.4:c.41C= MANE Select NP_001763.3:p.Ala14=
ENST00000262262.5:c.41C= MANE Select ENSP00000262262.3:p.Ala14=
NM_001082618.1:c.37+66C= NP_001076087.1:n.37+66C=
NM_001082618.2:c.37+66C= NP_001076087.1:n.37+66C=
NM_001177608.1:c.41C= NP_001171079.1:p.Ala14=
NM_001177608.2:c.41C= NP_001171079.1:p.Ala14=
NM_001772.3:c.41C= NP_001763.3:p.Ala14=
ENST00000262262.4:c.41C= ENSP00000262262.3:p.Ala14=
ENST00000391796.7:c.41C= ENSP00000375673.2:p.Ala14=
ENST00000421133.6:c.37+66C= ENSP00000410126.1:n.37+66C=
ENST00000436584.6:c.37+66C= ENSP00000403331.2:n.37+66C=
ENST00000601785.5:n.91C=
XM_011527531.1:c.203C= XP_011525833.1:p.Ala68=
XM_011527531.2:c.203C= XP_011525833.1:p.Ala68=
XM_011527532.1:c.41C= XP_011525834.1:p.Ala14=
XM_011527532.2:c.41C= XP_011525834.1:p.Ala14=
XM_017027508.1:c.203C= XP_016882997.1:p.Ala68=
XM_017027509.1:c.203C= XP_016882998.1:p.Ala68=
XM_017027510.1:c.199+66C= XP_016882999.1:n.199+66C=
XR_935875.1:n.275C=