Canonical Allele Identifier: CA135105819
Gene: CD83 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.14136783T>C
GRCh37 chr6:g.14137014T>C
gnomAD v2:
6:14137014 T / C
gnomAD v3:
6:14136783 T / C
gnomAD v4:
chr6-14136783-T-C
Joint Max Group AF 0.83243574 (SAS)
Genomes Max Group AF 0.83243574 (SAS)
dbSNP:
9230
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.14136783T>C , CM000668.2:g.14136783T>C GRCh38
NC_000006.11:g.14137014T>C , CM000668.1:g.14137014T>C GRCh37
NC_000006.10:g.14244993T>C NCBI36
NG_030372.1:g.24528T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379153.4:c.*1547T>C MANE Select ENSP00000368450.3:n.*1547T>C
ENST00000379153.3:c.*1547T>C ENSP00000368450.3:n.*1547T>C
ENST00000612003.4:c.*1547T>C ENSP00000480760.1:n.*1547T>C
NM_001040280.1:c.*1547T>C NP_001035370.1:n.*1547T>C
NM_001251901.1:c.*1547T>C NP_001238830.1:n.*1547T>C
NM_004233.3:c.*1547T>C NP_004224.1:n.*1547T>C
NM_004233.4:c.*1547T>C MANE Select NP_004224.1:n.*1547T>C
NM_001040280.2:c.*1547T>C NP_001035370.1:n.*1547T>C
NM_001040280.3:c.*1547T>C NP_001035370.1:n.*1547T>C
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