Canonical Allele Identifier: CA3594005
Gene: GRM6 HGNC NCBI

Linked Data

ClinVar Variation Id: 225382
ClinVar RCV Id: RCV000490371 RCV001073808 RCV001414928
dbSNP Id: rs201396068
ExAC: 5:178413718 C / T
gnomAD v2: 5-178413718-C-T
gnomAD v3: 5-178986717-C-T
gnomAD v4: 5-178986717-C-T
MyVariant Identifiers: chr5:g.178413718C>T (hg19) chr5:g.178986717C>T (hg38)
PubMed: PMID:19862333 PMID:22735794
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178986717C>T , CM000667.2:g.178986717C>T GRCh38
NC_000005.9:g.178413718C>T , CM000667.1:g.178413718C>T GRCh37
NC_000005.8:g.178346324C>T NCBI36
NG_008105.1:g.13407G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000517717.3:c.1537G>A MANE Select ENSP00000430767.1:p.Val513Met
ENST00000650031.1:c.1537G>A ENSP00000497110.1:p.Val513Met
ENST00000231188.9:c.1537G>A ENSP00000231188.5:p.Val513Met
ENST00000517717.1:c.1537G>A ENSP00000430767.1:p.Val513Met
ENST00000518082.1:n.305G>A
NM_000843.3:c.1537G>A NP_000834.2:p.Val513Met
XR_941310.1:n.1470-3030C>T
NM_000843.4:c.1537G>A MANE Select NP_000834.2:p.Val513Met
Search 100 bp 5'
Search 100 bp 3'