Canonical Allele Identifier: CA117804
Gene: GRM6 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.178994497C>T
GRCh37 chr5:g.178421498C>T
Revel Score:
ENST00000231188 0.966
ENST00000517717 (MANE Select) 0.966
gnomAD v2:
5:178421498 C / T
gnomAD v3:
5:178994497 C / T
gnomAD v4:
chr5-178994497-C-T
Joint Max Group AF 0.0000119 (NFE)
Genomes Max Group AF 0.00002848 (NFE)
Exomes Max Group AF 0.00000874 (NFE)
ClinVar RCV:
RCV000006200
RCV000086056
ClinVar Variation:
5843
dbSNP:
62638202
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178994497C>T , CM000667.2:g.178994497C>T GRCh38
NC_000005.9:g.178421498C>T , CM000667.1:g.178421498C>T GRCh37
NC_000005.8:g.178354104C>T NCBI36
NG_008105.1:g.5627G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000517717.3:c.448G>A MANE Select ENSP00000430767.1:p.Gly150Ser
ENST00000650031.1:c.448G>A ENSP00000497110.1:p.Gly150Ser
ENST00000231188.9:c.448G>A ENSP00000231188.5:p.Gly150Ser
ENST00000517717.1:c.448G>A ENSP00000430767.1:p.Gly150Ser
NM_000843.3:c.448G>A NP_000834.2:p.Gly150Ser
NM_000843.4:c.448G>A MANE Select NP_000834.2:p.Gly150Ser
Search 100 bp 5'
Search 100 bp 3'