Canonical Allele Identifier: CA3744662
Gene: HLA-DQB1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32665043C>A
GRCh37 chr6:g.32632820C>A
Revel Score:
ENST00000399079 0.084
ENST00000374943 0.084
ENST00000434651 (MANE Select) 0.084
ENST00000399084 0.084
gnomAD v2:
6:32632820 C / A
gnomAD v3:
6:32665043 C / A
gnomAD v4:
chr6-32665043-C-A
Joint Max Group AF 0.00013245 (AFR)
Genomes Max Group AF 0.0001121 (AFR)
Exomes Max Group AF 0.00009195 (AFR)
dbSNP:
1130375
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32665043C>A , CM000668.2:g.32665043C>A GRCh38
NC_000006.11:g.32632820C>A , CM000668.1:g.32632820C>A GRCh37
NC_000006.10:g.32740798C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000434651.7:c.134G>T MANE Select ENSP00000407332.2:p.Gly45Val
ENST00000374943.8:c.134G>T ENSP00000364080.4:p.Gly45Val
ENST00000399079.7:c.134G>T ENSP00000382029.3:p.Gly45Val
ENST00000399082.7:c.109+1456G>T ENSP00000382032.3:n.109+1456G>T
ENST00000399084.5:c.134G>T ENSP00000382034.1:p.Gly45Val
ENST00000434651.6:c.134G>T ENSP00000407332.2:p.Gly45Val
ENST00000484729.2:c.134G>T ENSP00000436686.1:p.Gly45Val
ENST00000487676.1:n.165G>T
NM_001243961.1:c.134G>T NP_001230890.1:p.Gly45Val
NM_002123.4:c.134G>T NP_002114.3:p.Gly45Val
NM_001243961.2:c.134G>T NP_001230890.1:p.Gly45Val
NM_002123.5:c.134G>T MANE Select NP_002114.3:p.Gly45Val
Search 100 bp 5'
Search 100 bp 3'