Canonical Allele Identifier: CA221373

Gene: GRM6

Linked Data

• ClinVar Variation Id: 93440
• ClinVar RCV Id: RCV000079326 ; RCV000259068
• dbSNP Id: rs62642053
• ExAC: 5:178421927 C / T
• gnomAD v2: 5-178421927-C-T
• gnomAD v3: 5-178994926-C-T
• gnomAD v4: 5-178994926-C-T
• COSMIC: COSM4159792
• MyVariant Identifiers: chr5:g.178421927C>T (hg19) ; chr5:g.178994926C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.178994926C>T , CM000667.2:g.178994926C>T	GRCh38
NC_000005.9:g.178421927C>T , CM000667.1:g.178421927C>T	GRCh37
NC_000005.8:g.178354533C>T	NCBI36
NG_008105.1:g.5198G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517717.3:c.19G>A MANE Select	ENSP00000430767.1:p.Ala7Thr
ENST00000650031.1:c.19G>A	ENSP00000497110.1:p.Ala7Thr
ENST00000231188.9:c.19G>A	ENSP00000231188.5:p.Ala7Thr
ENST00000517717.1:c.19G>A	ENSP00000430767.1:p.Ala7Thr
NM_000843.3:c.19G>A	NP_000834.2:p.Ala7Thr
NM_000843.4:c.19G>A MANE Select	NP_000834.2:p.Ala7Thr