Canonical Allele Identifier: CA370513754

Gene: HR

Linked Data

• MyVariant Identifiers: chr8:g.21973832C>T (hg19) ; chr8:g.22116319C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116319C>T , CM000670.2:g.22116319C>T	GRCh38
NC_000008.10:g.21973832C>T , CM000670.1:g.21973832C>T	GRCh37
NC_000008.9:g.22029777C>T	NCBI36
NG_008166.1:g.19199G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3488G>A MANE Select	ENSP00000370826.4:p.Cys1163Tyr
ENST00000680789.1:c.3488G>A	ENSP00000505181.1:p.Cys1163Tyr
ENST00000312841.9:c.3323G>A	ENSP00000326765.8:p.Cys1108Tyr
ENST00000381418.8:c.3488G>A	ENSP00000370826.4:p.Cys1163Tyr
ENST00000522016.1:n.1681G>A
NM_005144.4:c.3488G>A	NP_005135.2:p.Cys1163Tyr
NM_018411.4:c.3323G>A	NP_060881.2:p.Cys1108Tyr
XM_005273569.1:c.3491G>A	XP_005273626.1:p.Cys1164Tyr
XM_006716367.1:c.3326G>A	XP_006716430.1:p.Cys1109Tyr
XM_005273569.2:c.3491G>A	XP_005273626.1:p.Cys1164Tyr
XM_006716367.2:c.3326G>A	XP_006716430.1:p.Cys1109Tyr
NM_005144.5:c.3488G>A MANE Select	NP_005135.2:p.Cys1163Tyr