Canonical Allele Identifier: CA210692
Gene: HR HGNC NCBI
COSMIC:
COSM4984992 (not active)
MyVariant.info:
GRCh38 chr8:g.22119197T>C
GRCh37 chr8:g.21976710T>C
Revel Score:
ENST00000381418 (MANE Select) 0.122
ENST00000312841 0.122
gnomAD v2:
8:21976710 T / C
gnomAD v3:
8:22119197 T / C
gnomAD v4:
chr8-22119197-T-C
Joint Max Group AF 0.24370932 (AFR)
Genomes Max Group AF 0.23965443 (AFR)
Exomes Max Group AF 0.24599509 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22119197T>C , CM000670.2:g.22119197T>C GRCh38
NC_000008.10:g.21976710T>C , CM000670.1:g.21976710T>C GRCh37
NC_000008.9:g.22032655T>C NCBI36
NG_008166.1:g.16321A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.3064A>G MANE Select ENSP00000370826.4:p.Thr1022Ala
ENST00000680789.1:c.3064A>G ENSP00000505181.1:p.Thr1022Ala
ENST00000312841.9:c.3064A>G ENSP00000326765.8:p.Thr1022Ala
ENST00000381418.8:c.3064A>G ENSP00000370826.4:p.Thr1022Ala
ENST00000522039.1:n.196A>G
NM_005144.4:c.3064A>G NP_005135.2:p.Thr1022Ala
NM_018411.4:c.3064A>G NP_060881.2:p.Thr1022Ala
XM_005273569.1:c.3067A>G XP_005273626.1:p.Thr1023Ala
XM_006716367.1:c.3067A>G XP_006716430.1:p.Thr1023Ala
XM_005273569.2:c.3067A>G XP_005273626.1:p.Thr1023Ala
XM_006716367.2:c.3067A>G XP_006716430.1:p.Thr1023Ala
NM_005144.5:c.3064A>G MANE Select NP_005135.2:p.Thr1022Ala
Search 100 bp 5'
Search 100 bp 3'