Canonical Allele Identifier: CA14740863
Gene: CD33 HGNC NCBI
ClinVar RCV:
RCV001696013
ClinVar Variation:
1282621
dbSNP:
1803254
gnomAD v2:
19:51743144 G / C
gnomAD v3:
19:51239889 G / C
gnomAD v4:
chr19-51239889-G-C
Joint Max Group AF 0.34145354 (AMR)
Genomes Max Group AF 0.32017145 (AMR)
Exomes Max Group AF 0.3740323 (AMR)
MyVariant.info:
GRCh38 chr19:g.51239889G>C
GRCh37 chr19:g.51743144G>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51239889G>C , CM000681.2:g.51239889G>C GRCh38
NC_000019.9:g.51743144G>C , CM000681.1:g.51743144G>C GRCh37
NC_000019.8:g.56434956G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262262.5:c.*201G>C MANE Select ENSP00000262262.3:n.*201G>C
ENST00000262262.4:c.*201G>C ENSP00000262262.3:n.*201G>C
ENST00000421133.6:c.*201G>C ENSP00000410126.1:n.*201G>C
ENST00000598473.1:n.4211+151G>C
ENST00000600557.1:n.410G>C
ENST00000601785.5:n.1423G>C
NM_001082618.1:c.*201G>C NP_001076087.1:n.*201G>C
NM_001772.3:c.*201G>C NP_001763.3:n.*201G>C
XM_011527531.1:c.*201G>C XP_011525833.1:n.*201G>C
XM_011527532.1:c.*201G>C XP_011525834.1:n.*201G>C
XR_935875.1:n.1883G>C
XM_011527531.2:c.*201G>C XP_011525833.1:n.*201G>C
XM_011527532.2:c.*201G>C XP_011525834.1:n.*201G>C
XM_017027508.1:c.*201G>C XP_016882997.1:n.*201G>C
XM_017027509.1:c.*201G>C XP_016882998.1:n.*201G>C
XM_017027510.1:c.*201G>C XP_016882999.1:n.*201G>C
NM_001772.4:c.*201G>C MANE Select NP_001763.3:n.*201G>C
NM_001082618.2:c.*201G>C NP_001076087.1:n.*201G>C
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