Canonical Allele Identifier: CA2677392573
Gene: CD83 HGNC NCBI

Linked Data

gnomAD v4: 6-14133872-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.14133872A>C , CM000668.2:g.14133872A>C GRCh38
NC_000006.11:g.14134103A>C , CM000668.1:g.14134103A>C GRCh37
NC_000006.10:g.14242082A>C NCBI36
NG_030372.1:g.21617A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379153.4:c.489+117A>C MANE Select ENSP00000368450.3:n.489+117A>C
ENST00000379153.3:c.489+117A>C ENSP00000368450.3:n.489+117A>C
ENST00000612003.4:c.312+117A>C ENSP00000480760.1:n.312+117A>C
NM_001040280.1:c.489+117A>C NP_001035370.1:n.489+117A>C
NM_001251901.1:c.312+117A>C NP_001238830.1:n.312+117A>C
NM_004233.3:c.489+117A>C NP_004224.1:n.489+117A>C
NM_004233.4:c.489+117A>C MANE Select NP_004224.1:n.489+117A>C
NM_001040280.2:c.489+117A>C NP_001035370.1:n.489+117A>C
NM_001040280.3:c.489+117A>C NP_001035370.1:n.489+117A>C