Canonical Allele Identifier: CA117799

Gene: GRM6

Linked Data

• ClinVar Variation Id: 5840
• ClinVar RCV Id: RCV000006197 ; RCV000086036 ; RCV000787608 ; RCV001074243
• dbSNP Id: rs62638214
• ExAC: 5:178413394 G / A
• gnomAD v2: 5-178413394-G-A
• gnomAD v3: 5-178986393-G-A
• gnomAD v4: 5-178986393-G-A
• MyVariant Identifiers: chr5:g.178413394G>A (hg19) ; chr5:g.178986393G>A (hg38)
• PubMed: PMID:11874764 ; PMID:15781871

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.178986393G>A , CM000667.2:g.178986393G>A	GRCh38
NC_000005.9:g.178413394G>A , CM000667.1:g.178413394G>A	GRCh37
NC_000005.8:g.178346000G>A	NCBI36
NG_008105.1:g.13731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517717.3:c.1861C>T MANE Select	ENSP00000430767.1:p.Arg621Ter
ENST00000650031.1:c.1861C>T	ENSP00000497110.1:p.Arg621Ter
ENST00000231188.9:c.1861C>T	ENSP00000231188.5:p.Arg621Ter
ENST00000517717.1:c.1861C>T	ENSP00000430767.1:p.Arg621Ter
NM_000843.3:c.1861C>T	NP_000834.2:p.Arg621Ter
XR_941310.1:n.1470-3354G>A
NM_000843.4:c.1861C>T MANE Select	NP_000834.2:p.Arg621Ter