Canonical Allele Identifier: CA3593502

Gene: GRM6

Linked Data

• ClinVar Variation Id: 849482
• ClinVar RCV Id: RCV001053454
• dbSNP Id: rs766395429
• ExAC: 5:178408714 C / A
• gnomAD v2: 5-178408714-C-A
• gnomAD v3: 5-178981713-C-A
• gnomAD v4: 5-178981713-C-A
• MyVariant Identifiers: chr5:g.178408714C>A (hg19) ; chr5:g.178981713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.178981713C>A , CM000667.2:g.178981713C>A	GRCh38
NC_000005.9:g.178408714C>A , CM000667.1:g.178408714C>A	GRCh37
NC_000005.8:g.178341320C>A	NCBI36
NG_008105.1:g.18411G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517717.3:c.2578G>T MANE Select	ENSP00000430767.1:p.Ala860Ser
ENST00000650031.1:c.2578G>T	ENSP00000497110.1:p.Ala860Ser
ENST00000650488.1:n.1301G>T
ENST00000231188.9:c.2578G>T	ENSP00000231188.5:p.Ala860Ser
ENST00000517717.1:c.2578G>T	ENSP00000430767.1:p.Ala860Ser
NM_000843.3:c.2578G>T	NP_000834.2:p.Ala860Ser
XR_941310.1:n.1470-8034C>A
NM_000843.4:c.2578G>T MANE Select	NP_000834.2:p.Ala860Ser