Canonical Allele Identifier: CA117805
Gene: GRM6 HGNC NCBI

Linked Data

ClinVar Variation Id: 5844
ClinVar RCV Id: RCV000006201 RCV000086025 RCV000504939
dbSNP Id: rs62638197
gnomAD v2: 5-178421809-G-A
gnomAD v3: 5-178994808-G-A
gnomAD v4: 5-178994808-G-A
MyVariant Identifiers: chr5:g.178421809G>A (hg19) chr5:g.178994808G>A (hg38)
PubMed: PMID:16249515 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178994808G>A , CM000667.2:g.178994808G>A GRCh38
NC_000005.9:g.178421809G>A , CM000667.1:g.178421809G>A GRCh37
NC_000005.8:g.178354415G>A NCBI36
NG_008105.1:g.5316C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000517717.3:c.137C>T MANE Select ENSP00000430767.1:p.Pro46Leu
ENST00000650031.1:c.137C>T ENSP00000497110.1:p.Pro46Leu
ENST00000231188.9:c.137C>T ENSP00000231188.5:p.Pro46Leu
ENST00000517717.1:c.137C>T ENSP00000430767.1:p.Pro46Leu
NM_000843.3:c.137C>T NP_000834.2:p.Pro46Leu
NM_000843.4:c.137C>T MANE Select NP_000834.2:p.Pro46Leu
Search 100 bp 5'
Search 100 bp 3'