Canonical Allele Identifier: CA2677392577

Gene: CD83

Linked Data

• gnomAD v4: 6-14133874-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.14133874C>T , CM000668.2:g.14133874C>T	GRCh38
NC_000006.11:g.14134105C>T , CM000668.1:g.14134105C>T	GRCh37
NC_000006.10:g.14242084C>T	NCBI36
NG_030372.1:g.21619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379153.4:c.489+119C>T MANE Select	ENSP00000368450.3:n.489+119C>T
ENST00000379153.3:c.489+119C>T	ENSP00000368450.3:n.489+119C>T
ENST00000612003.4:c.312+119C>T	ENSP00000480760.1:n.312+119C>T
NM_001040280.1:c.489+119C>T	NP_001035370.1:n.489+119C>T
NM_001251901.1:c.312+119C>T	NP_001238830.1:n.312+119C>T
NM_004233.3:c.489+119C>T	NP_004224.1:n.489+119C>T
NM_004233.4:c.489+119C>T MANE Select	NP_004224.1:n.489+119C>T
NM_001040280.2:c.489+119C>T	NP_001035370.1:n.489+119C>T
NM_001040280.3:c.489+119C>T	NP_001035370.1:n.489+119C>T