Canonical Allele Identifier: CA173458112
Gene: HR HGNC NCBI

Linked Data

dbSNP Id: rs901876332
gnomAD v2: 8-21981162-C-G
gnomAD v3: 8-22123649-C-G
gnomAD v4: 8-22123649-C-G
MyVariant Identifiers: chr8:g.21981162C>G (hg19) chr8:g.21981162_21981170delinsGTGCTTTCT (hg19) chr8:g.22123649C>G (hg38) chr8:g.22123649_22123657delinsGTGCTTTCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22123649C>G , CM000670.2:g.22123649C>G GRCh38
NC_000008.10:g.21981162C>G , CM000670.1:g.21981162C>G GRCh37
NC_000008.9:g.22037107C>G NCBI36
NG_008166.1:g.11869G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.1915G>C MANE Select ENSP00000370826.4:p.Gly639Arg
ENST00000680789.1:c.1915G>C ENSP00000505181.1:p.Gly639Arg
ENST00000312841.9:c.1915G>C ENSP00000326765.8:p.Gly639Arg
ENST00000381418.8:c.1915G>C ENSP00000370826.4:p.Gly639Arg
NM_005144.4:c.1915G>C NP_005135.2:p.Gly639Arg
NM_018411.4:c.1915G>C NP_060881.2:p.Gly639Arg
XM_005273569.1:c.1918G>C XP_005273626.1:p.Gly640Arg
XM_006716367.1:c.1918G>C XP_006716430.1:p.Gly640Arg
XM_005273569.2:c.1918G>C XP_005273626.1:p.Gly640Arg
XM_006716367.2:c.1918G>C XP_006716430.1:p.Gly640Arg
NM_005144.5:c.1915G>C MANE Select NP_005135.2:p.Gly639Arg
Search 100 bp 5'
Search 100 bp 3'