Canonical Allele Identifier: CA448027914
Gene: GRM6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1005990
ClinVar RCV Id: RCV001302961
dbSNP Id: rs1760738194
gnomAD v3: 5-178994558-G-C
gnomAD v4: 5-178994558-G-C
MyVariant Identifiers: chr5:g.178421559G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178994558G>C , CM000667.2:g.178994558G>C GRCh38
NC_000005.9:g.178421559G>C , CM000667.1:g.178421559G>C GRCh37
NC_000005.8:g.178354165G>C NCBI36
NG_008105.1:g.5566C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000517717.3:c.387C>G MANE Select ENSP00000430767.1:p.Arg129=
ENST00000650031.1:c.387C>G ENSP00000497110.1:p.Arg129=
ENST00000231188.9:c.387C>G ENSP00000231188.5:p.Arg129=
ENST00000517717.1:c.387C>G ENSP00000430767.1:p.Arg129=
NM_000843.3:c.387C>G NP_000834.2:p.Arg129=
NM_000843.4:c.387C>G MANE Select NP_000834.2:p.Arg129=
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