Canonical Allele Identifier: CA12411522

Gene: CD83

Linked Data

• dbSNP Id: rs9296925
• gnomAD v2: 6-14134083-T-C
• gnomAD v3: 6-14133852-T-C
• gnomAD v4: 6-14133852-T-C
• MyVariant Identifiers: chr6:g.14134083T>C (hg19) ; chr6:g.14133852T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.14133852T>C , CM000668.2:g.14133852T>C	GRCh38
NC_000006.11:g.14134083T>C , CM000668.1:g.14134083T>C	GRCh37
NC_000006.10:g.14242062T>C	NCBI36
NG_030372.1:g.21597T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379153.4:c.489+97T>C MANE Select	ENSP00000368450.3:n.489+97T>C
ENST00000379153.3:c.489+97T>C	ENSP00000368450.3:n.489+97T>C
ENST00000612003.4:c.312+97T>C	ENSP00000480760.1:n.312+97T>C
NM_001040280.1:c.489+97T>C	NP_001035370.1:n.489+97T>C
NM_001251901.1:c.312+97T>C	NP_001238830.1:n.312+97T>C
NM_004233.3:c.489+97T>C	NP_004224.1:n.489+97T>C
NM_004233.4:c.489+97T>C MANE Select	NP_004224.1:n.489+97T>C
NM_001040280.2:c.489+97T>C	NP_001035370.1:n.489+97T>C
NM_001040280.3:c.489+97T>C	NP_001035370.1:n.489+97T>C