Canonical Allele Identifier: CA5715100
Gene: GRK5 HGNC NCBI
COSMIC:
COSM4984984 (not active)
COSM4984985 (not active)
MyVariant.info:
GRCh38 chr10:g.119326585A>T
GRCh37 chr10:g.121086097A>T
Revel Score:
ENST00000369106 0.104
ENST00000392870 (MANE Select) 0.104
gnomAD v2:
10:121086097 A / T
gnomAD v3:
10:119326585 A / T
gnomAD v4:
chr10-119326585-A-T
Joint Max Group AF 0.26475823 (AFR)
Genomes Max Group AF 0.2568254 (AFR)
Exomes Max Group AF 0.2717411 (AFR)
dbSNP:
2230345
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119326585A>T , CM000672.2:g.119326585A>T GRCh38
NC_000010.10:g.121086097A>T , CM000672.1:g.121086097A>T GRCh37
NC_000010.9:g.121076087A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000392870.3:c.122A>T MANE Select ENSP00000376609.2:p.Gln41Leu
ENST00000392870.2:c.122A>T ENSP00000376609.2:p.Gln41Leu
NM_005308.2:c.122A>T NP_005299.1:p.Gln41Leu
XM_005269707.1:c.122A>T XP_005269764.1:p.Gln41Leu
XM_005269708.1:c.53-54230A>T XP_005269765.1:n.53-54230A>T
XM_005269707.2:c.122A>T XP_005269764.1:p.Gln41Leu
NM_005308.3:c.122A>T MANE Select NP_005299.1:p.Gln41Leu
Search 100 bp 5'
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