Canonical Allele Identifier: CA117805
Gene: GRM6 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.178994808G>A
GRCh37 chr5:g.178421809G>A
Revel Score:
ENST00000231188 0.861
ENST00000517717 (MANE Select) 0.861
gnomAD v2:
5:178421809 G / A
gnomAD v3:
5:178994808 G / A
gnomAD v4:
chr5-178994808-G-A
Joint Max Group AF 0.00016332 (NFE)
Genomes Max Group AF 0.00009166 (NFE)
Exomes Max Group AF 0.00016427 (NFE)
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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
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