Canonical Allele Identifier: CA117802
Gene: GRM6 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.178986132G>A
GRCh37 chr5:g.178413133G>A
gnomAD v2:
5:178413133 G / A
gnomAD v3:
5:178986132 G / A
gnomAD v4:
chr5-178986132-G-A
Joint Max Group AF 0.00009006 (AMR)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00008871 (AMR)
ClinVar RCV:
RCV000006199
RCV000086044
ClinVar Variation:
5842
dbSNP:
62638624
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178986132G>A , CM000667.2:g.178986132G>A GRCh38
NC_000005.9:g.178413133G>A , CM000667.1:g.178413133G>A GRCh37
NC_000005.8:g.178345739G>A NCBI36
NG_008105.1:g.13992C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000517717.3:c.2122C>T MANE Select ENSP00000430767.1:p.Gln708Ter
ENST00000650031.1:c.2122C>T ENSP00000497110.1:p.Gln708Ter
ENST00000231188.9:c.2122C>T ENSP00000231188.5:p.Gln708Ter
ENST00000517717.1:c.2122C>T ENSP00000430767.1:p.Gln708Ter
ENST00000519003.1:n.121C>T
NM_000843.3:c.2122C>T NP_000834.2:p.Gln708Ter
XR_941310.1:n.1470-3615G>A
NM_000843.4:c.2122C>T MANE Select NP_000834.2:p.Gln708Ter
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