Canonical Allele Identifier: CA3594578
Gene: GRM6 HGNC NCBI

Linked Data

ClinVar Variation Id: 863330
ClinVar RCV Id: RCV001070270
dbSNP Id: rs764026431
ExAC: 5:178421699 G / C
gnomAD v2: 5-178421699-G-C
gnomAD v3: 5-178994698-G-C
gnomAD v4: 5-178994698-G-C
MyVariant Identifiers: chr5:g.178421699G>C (hg19) chr5:g.178994698G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178994698G>C , CM000667.2:g.178994698G>C GRCh38
NC_000005.9:g.178421699G>C , CM000667.1:g.178421699G>C GRCh37
NC_000005.8:g.178354305G>C NCBI36
NG_008105.1:g.5426C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000517717.3:c.247C>G MANE Select ENSP00000430767.1:p.Pro83Ala
ENST00000650031.1:c.247C>G ENSP00000497110.1:p.Pro83Ala
ENST00000231188.9:c.247C>G ENSP00000231188.5:p.Pro83Ala
ENST00000517717.1:c.247C>G ENSP00000430767.1:p.Pro83Ala
NM_000843.3:c.247C>G NP_000834.2:p.Pro83Ala
NM_000843.4:c.247C>G MANE Select NP_000834.2:p.Pro83Ala
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