Canonical Allele Identifier: CA203439
Gene: GRM6 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.178986876G>A
GRCh37 chr5:g.178413877G>A
gnomAD v2:
5:178413877 G / A
gnomAD v3:
5:178986876 G / A
gnomAD v4:
chr5-178986876-G-A
Joint Max Group AF 0.00000688 (NFE)
Exomes Max Group AF 0.00000652 (NFE)
ClinVar RCV:
RCV000179789
ClinVar Variation:
198438
dbSNP:
748979061
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178986876G>A , CM000667.2:g.178986876G>A GRCh38
NC_000005.9:g.178413877G>A , CM000667.1:g.178413877G>A GRCh37
NC_000005.8:g.178346483G>A NCBI36
NG_008105.1:g.13248C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000517717.3:c.1462C>T MANE Select ENSP00000430767.1:p.Gln488Ter
ENST00000650031.1:c.1462C>T ENSP00000497110.1:p.Gln488Ter
ENST00000231188.9:c.1462C>T ENSP00000231188.5:p.Gln488Ter
ENST00000517717.1:c.1462C>T ENSP00000430767.1:p.Gln488Ter
ENST00000518082.1:n.146C>T
NM_000843.3:c.1462C>T NP_000834.2:p.Gln488Ter
XR_941310.1:n.1470-2871G>A
NM_000843.4:c.1462C>T MANE Select NP_000834.2:p.Gln488Ter
Search 100 bp 5'
Search 100 bp 3'