Canonical Allele Identifier: CA29276704

Gene: CD53

Linked Data

• dbSNP Id: rs146692901
• gnomAD v3: 1-110875312-T-A
• gnomAD v4: 1-110875312-T-A
• MyVariant Identifiers: chr1:g.111417934T>A (hg19) ; chr1:g.110875312T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.110875312T>A , CM000663.2:g.110875312T>A	GRCh38
NC_000001.10:g.111417934T>A , CM000663.1:g.111417934T>A	GRCh37
NC_000001.9:g.111219457T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271324.6:c.-18+2064T>A MANE Select	ENSP00000271324.5:n.-18+2064T>A
ENST00000648608.1:c.-18+2064T>A	ENSP00000497382.1:n.-18+2064T>A
ENST00000271324.5:c.-18+2064T>A	ENSP00000271324.5:n.-18+2064T>A
ENST00000471220.5:n.66+2064T>A
NM_000560.3:c.-18+2064T>A	NP_000551.1:n.-18+2064T>A
NM_001040033.1:c.-18+2064T>A	NP_001035122.1:n.-18+2064T>A
XM_006711053.2:c.-18+2064T>A	XP_006711116.1:n.-18+2064T>A
XM_011542447.1:c.-18+2064T>A	XP_011540749.1:n.-18+2064T>A
NM_001320638.1:c.-18+2064T>A	NP_001307567.1:n.-18+2064T>A
XM_024451057.1:c.-894+2064T>A	XP_024306825.1:n.-894+2064T>A
NM_000560.4:c.-18+2064T>A MANE Select	NP_000551.1:n.-18+2064T>A
NM_001040033.2:c.-18+2064T>A	NP_001035122.1:n.-18+2064T>A
NM_001320638.2:c.-18+2064T>A	NP_001307567.1:n.-18+2064T>A