Canonical Allele Identifier: CA2677392548
Gene: CD83 HGNC NCBI

Linked Data

gnomAD v4: 6-14133857-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.14133857G>A , CM000668.2:g.14133857G>A GRCh38
NC_000006.11:g.14134088G>A , CM000668.1:g.14134088G>A GRCh37
NC_000006.10:g.14242067G>A NCBI36
NG_030372.1:g.21602G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379153.4:c.489+102G>A MANE Select ENSP00000368450.3:n.489+102G>A
ENST00000379153.3:c.489+102G>A ENSP00000368450.3:n.489+102G>A
ENST00000612003.4:c.312+102G>A ENSP00000480760.1:n.312+102G>A
NM_001040280.1:c.489+102G>A NP_001035370.1:n.489+102G>A
NM_001251901.1:c.312+102G>A NP_001238830.1:n.312+102G>A
NM_004233.3:c.489+102G>A NP_004224.1:n.489+102G>A
NM_004233.4:c.489+102G>A MANE Select NP_004224.1:n.489+102G>A
NM_001040280.2:c.489+102G>A NP_001035370.1:n.489+102G>A
NM_001040280.3:c.489+102G>A NP_001035370.1:n.489+102G>A