Canonical Allele Identifier: CA3920985
Gene: RRAGD HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.89411887T>C
GRCh37 chr6:g.90121606T>C
Revel Score:
ENST00000369415 (MANE Select) 0.111
gnomAD v2:
6:90121606 T / C
gnomAD v3:
6:89411887 T / C
gnomAD v4:
chr6-89411887-T-C
Joint Max Group AF 0.00014925 (NFE)
Genomes Max Group AF 0.00010248 (NFE)
Exomes Max Group AF 0.00014834 (NFE)
ClinVar RCV:
RCV002940733
ClinVar Variation:
2334036
dbSNP:
376790069
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.89411887T>C , CM000668.2:g.89411887T>C GRCh38
NC_000006.11:g.90121606T>C , CM000668.1:g.90121606T>C GRCh37
NC_000006.10:g.90178325T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369415.9:c.107A>G MANE Select ENSP00000358423.4:p.Asp36Gly
ENST00000359203.3:c.-51A>G ENSP00000352131.2:n.-51A>G
ENST00000369415.8:c.107A>G ENSP00000358423.4:p.Asp36Gly
NM_021244.4:c.107A>G NP_067067.1:p.Asp36Gly
XM_005248755.3:c.107A>G XP_005248812.1:p.Asp36Gly
XM_005248755.5:c.107A>G XP_005248812.1:p.Asp36Gly
NM_021244.5:c.107A>G MANE Select NP_067067.1:p.Asp36Gly
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