Canonical Allele Identifier: CA122828
Gene: RHAG HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.49612506C>T
GRCh37 chr6:g.49580219C>T
Revel Score:
ENST00000371175 (MANE Select) 0.870
ENST00000229810 0.870
ENST00000418071 0.870
ENST00000539403 0.870
gnomAD v2:
6:49580219 C / T
gnomAD v4:
chr6-49612506-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000013935
ClinVar Variation:
13060
dbSNP:
121918587
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49612506C>T , CM000668.2:g.49612506C>T GRCh38
NC_000006.11:g.49580219C>T , CM000668.1:g.49580219C>T GRCh37
NC_000006.10:g.49688178C>T NCBI36
NG_011704.1:g.29369G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371175.10:c.836G>A MANE Select ENSP00000360217.4:p.Gly279Glu
ENST00000646272.1:c.836G>A ENSP00000494337.1:p.Gly279Glu
ENST00000646874.1:n.526G>A
ENST00000646939.1:c.836G>A ENSP00000494709.1:p.Gly279Glu
ENST00000646963.1:c.836G>A ENSP00000495337.1:p.Gly279Glu
ENST00000229810.9:c.836G>A ENSP00000229810.8:p.Gly279Glu
ENST00000371175.8:c.836G>A ENSP00000360217.4:p.Gly279Glu
ENST00000618248.3:c.836G>A ENSP00000482984.1:p.Gly279Glu
NM_000324.2:c.836G>A NP_000315.2:p.Gly279Glu
NM_000324.3:c.836G>A MANE Select NP_000315.2:p.Gly279Glu
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