Canonical Allele Identifier: CA2580078063

Gene: HR

Linked Data

• ClinVar Variation Id: 1923599
• ClinVar RCV Id: RCV002634619
• gnomAD v4: 8-22116434-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116434T>C , CM000670.2:g.22116434T>C	GRCh38
NC_000008.10:g.21973947T>C , CM000670.1:g.21973947T>C	GRCh37
NC_000008.9:g.22029892T>C	NCBI36
NG_008166.1:g.19084A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-6A>G MANE Select	ENSP00000370826.4:n.3379-6A>G
ENST00000680789.1:c.3379-6A>G	ENSP00000505181.1:n.3379-6A>G
ENST00000312841.9:c.3214-6A>G	ENSP00000326765.8:n.3214-6A>G
ENST00000381418.8:c.3379-6A>G	ENSP00000370826.4:n.3379-6A>G
ENST00000522016.1:n.1572-6A>G
NM_005144.4:c.3379-6A>G	NP_005135.2:n.3379-6A>G
NM_018411.4:c.3214-6A>G	NP_060881.2:n.3214-6A>G
XM_005273569.1:c.3382-6A>G	XP_005273626.1:n.3382-6A>G
XM_006716367.1:c.3217-6A>G	XP_006716430.1:n.3217-6A>G
XM_005273569.2:c.3382-6A>G	XP_005273626.1:n.3382-6A>G
XM_006716367.2:c.3217-6A>G	XP_006716430.1:n.3217-6A>G
NM_005144.5:c.3379-6A>G MANE Select	NP_005135.2:n.3379-6A>G