Canonical Allele Identifier: CA117807

Gene: GRM6

Linked Data

• ClinVar Variation Id: 5847
• ClinVar RCV Id: RCV000006204 ; RCV000439410
• dbSNP Id: rs121434304
• ExAC: 5:178416076 A / G
• gnomAD v2: 5-178416076-A-G
• gnomAD v3: 5-178989075-A-G
• gnomAD v4: 5-178989075-A-G
• MyVariant Identifiers: chr5:g.178416076A>G (hg19) ; chr5:g.178989075A>G (hg38)
• PubMed: PMID:17405131 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.178989075A>G , CM000667.2:g.178989075A>G	GRCh38
NC_000005.9:g.178416076A>G , CM000667.1:g.178416076A>G	GRCh37
NC_000005.8:g.178348682A>G	NCBI36
NG_008105.1:g.11049T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000517717.3:c.1214T>C MANE Select	ENSP00000430767.1:p.Ile405Thr
ENST00000650031.1:c.1214T>C	ENSP00000497110.1:p.Ile405Thr
ENST00000231188.9:c.1214T>C	ENSP00000231188.5:p.Ile405Thr
ENST00000517717.1:c.1214T>C	ENSP00000430767.1:p.Ile405Thr
NM_000843.3:c.1214T>C	NP_000834.2:p.Ile405Thr
XR_941310.1:n.1470-672A>G
NM_000843.4:c.1214T>C MANE Select	NP_000834.2:p.Ile405Thr