Canonical Allele Identifier: CA448027930
Gene: GRM6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1152770
ClinVar RCV Id: RCV001494185
dbSNP Id: rs1193779719
gnomAD v2: 5-178421580-G-A
gnomAD v3: 5-178994579-G-A
gnomAD v4: 5-178994579-G-A
COSMIC: COSM4688958
MyVariant Identifiers: chr5:g.178421580G>A (hg19) chr5:g.178994579G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178994579G>A , CM000667.2:g.178994579G>A GRCh38
NC_000005.9:g.178421580G>A , CM000667.1:g.178421580G>A GRCh37
NC_000005.8:g.178354186G>A NCBI36
NG_008105.1:g.5545C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000517717.3:c.366C>T MANE Select ENSP00000430767.1:p.Asp122=
ENST00000650031.1:c.366C>T ENSP00000497110.1:p.Asp122=
ENST00000231188.9:c.366C>T ENSP00000231188.5:p.Asp122=
ENST00000517717.1:c.366C>T ENSP00000430767.1:p.Asp122=
NM_000843.3:c.366C>T NP_000834.2:p.Asp122=
NM_000843.4:c.366C>T MANE Select NP_000834.2:p.Asp122=
Search 100 bp 5'
Search 100 bp 3'