Canonical Allele Identifier: CA3594569
Gene: GRM6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1116278
ClinVar RCV Id: RCV001444612
dbSNP Id: rs748710923
ExAC: 5:178421631 C / T
gnomAD v2: 5-178421631-C-T
gnomAD v3: 5-178994630-C-T
gnomAD v4: 5-178994630-C-T
MyVariant Identifiers: chr5:g.178421631C>T (hg19) chr5:g.178994630C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178994630C>T , CM000667.2:g.178994630C>T GRCh38
NC_000005.9:g.178421631C>T , CM000667.1:g.178421631C>T GRCh37
NC_000005.8:g.178354237C>T NCBI36
NG_008105.1:g.5494G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000517717.3:c.315G>A MANE Select ENSP00000430767.1:p.Ala105=
ENST00000650031.1:c.315G>A ENSP00000497110.1:p.Ala105=
ENST00000231188.9:c.315G>A ENSP00000231188.5:p.Ala105=
ENST00000517717.1:c.315G>A ENSP00000430767.1:p.Ala105=
NM_000843.3:c.315G>A NP_000834.2:p.Ala105=
NM_000843.4:c.315G>A MANE Select NP_000834.2:p.Ala105=
Search 100 bp 5'
Search 100 bp 3'