Canonical Allele Identifier: CA146978

Gene: GRM6

Linked Data

• ClinVar Variation Id: 93439
• ClinVar RCV Id: RCV000079325 ; RCV000086037 ; RCV000625248 ; RCV003915057
• dbSNP Id: rs62638215
• ExAC: 5:178413380 G / A
• gnomAD v2: 5-178413380-G-A
• gnomAD v3: 5-178986379-G-A
• gnomAD v4: 5-178986379-G-A
• MyVariant Identifiers: chr5:g.178413380G>A (hg19) ; chr5:g.178986379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.178986379G>A , CM000667.2:g.178986379G>A	GRCh38
NC_000005.9:g.178413380G>A , CM000667.1:g.178413380G>A	GRCh37
NC_000005.8:g.178345986G>A	NCBI36
NG_008105.1:g.13745C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517717.3:c.1875C>T MANE Select	ENSP00000430767.1:p.Tyr625=
ENST00000650031.1:c.1875C>T	ENSP00000497110.1:p.Tyr625=
ENST00000231188.9:c.1875C>T	ENSP00000231188.5:p.Tyr625=
ENST00000517717.1:c.1875C>T	ENSP00000430767.1:p.Tyr625=
NM_000843.3:c.1875C>T	NP_000834.2:p.Tyr625=
XR_941310.1:n.1470-3368G>A
NM_000843.4:c.1875C>T MANE Select	NP_000834.2:p.Tyr625=