Canonical Allele Identifier: CA117801
Gene: GRM6 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.178983005C>T
GRCh38 chr5:g.178983005_178983007delinsTGT
GRCh37 chr5:g.178410006C>T
GRCh37 chr5:g.178410006_178410008delinsTGT
Revel Score:
ENST00000231188 0.927
ENST00000517717 (MANE Select) 0.927
gnomAD v2:
5:178410006 C / T
gnomAD v3:
5:178983005 C / T
gnomAD v4:
chr5-178983005-C-T
Joint Max Group AF 0.00094677 (AMR)
Genomes Max Group AF 0.00278087 (AMR)
Exomes Max Group AF 0.00022384 (AMR)
ClinVar RCV:
RCV000006198
RCV000086047
ClinVar Variation:
5841
dbSNP:
62638625
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178983005C>T , CM000667.2:g.178983005C>T GRCh38
NC_000005.9:g.178410006C>T , CM000667.1:g.178410006C>T GRCh37
NC_000005.8:g.178342612C>T NCBI36
NG_008105.1:g.17119G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000517717.3:c.2341G>A MANE Select ENSP00000430767.1:p.Glu781Lys
ENST00000650031.1:c.2341G>A ENSP00000497110.1:p.Glu781Lys
ENST00000650488.1:n.1064G>A
ENST00000231188.9:c.2341G>A ENSP00000231188.5:p.Glu781Lys
ENST00000517717.1:c.2341G>A ENSP00000430767.1:p.Glu781Lys
ENST00000519003.1:n.340G>A
NM_000843.3:c.2341G>A NP_000834.2:p.Glu781Lys
XR_941310.1:n.1470-6742C>T
NM_000843.4:c.2341G>A MANE Select NP_000834.2:p.Glu781Lys
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