Canonical Allele Identifier: CA3697298
Gene: HLA-E HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.30490287G>A
GRCh37 chr6:g.30458064G>A
Revel Score:
ENST00000376630 (MANE Select) 0.065
gnomAD v2:
6:30458064 G / A
gnomAD v3:
6:30490287 G / A
gnomAD v4:
chr6-30490287-G-A
Joint Max Group AF 0.5904777 (NFE)
Genomes Max Group AF 0.57055027 (NFE)
Exomes Max Group AF 0.59143881 (NFE)
dbSNP:
1264457
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30490287G>A , CM000668.2:g.30490287G>A GRCh38
NC_000006.11:g.30458064G>A , CM000668.1:g.30458064G>A GRCh37
NC_000006.10:g.30566043G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376630.5:c.382G>A MANE Select ENSP00000365817.4:p.Gly128Arg
ENST00000376630.4:c.382G>A ENSP00000365817.4:p.Gly128Arg
ENST00000484194.1:n.648G>A
ENST00000493699.1:n.532G>A
NM_005516.5:c.382G>A NP_005507.3:p.Gly128Arg
XM_017010807.1:c.505G>A XP_016866296.1:p.Gly169Arg
XM_017010808.1:c.505G>A XP_016866297.1:p.Gly169Arg
XM_017010809.2:c.382G>A XP_016866298.1:p.Gly128Arg
NM_005516.6:c.382G>A MANE Select NP_005507.3:p.Gly128Arg
Search 100 bp 5'
Search 100 bp 3'