Canonical Allele Identifier: CA2594530070

Gene: HR

Linked Data

• dbSNP Id: rs1826579621
• gnomAD v3: 8-22116141-C-T
• gnomAD v4: 8-22116141-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116141C>T , CM000670.2:g.22116141C>T	GRCh38
NC_000008.10:g.21973654C>T , CM000670.1:g.21973654C>T	GRCh37
NC_000008.9:g.22029599C>T	NCBI36
NG_008166.1:g.19377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3507+159G>A MANE Select	ENSP00000370826.4:n.3507+159G>A
ENST00000680789.1:c.3507+159G>A	ENSP00000505181.1:n.3507+159G>A
ENST00000312841.9:c.3342+159G>A	ENSP00000326765.8:n.3342+159G>A
ENST00000381418.8:c.3507+159G>A	ENSP00000370826.4:n.3507+159G>A
ENST00000522016.1:n.1700+159G>A
NM_005144.4:c.3507+159G>A	NP_005135.2:n.3507+159G>A
NM_018411.4:c.3342+159G>A	NP_060881.2:n.3342+159G>A
XM_005273569.1:c.3510+159G>A	XP_005273626.1:n.3510+159G>A
XM_006716367.1:c.3345+159G>A	XP_006716430.1:n.3345+159G>A
XM_005273569.2:c.3510+159G>A	XP_005273626.1:n.3510+159G>A
XM_006716367.2:c.3345+159G>A	XP_006716430.1:n.3345+159G>A
NM_005144.5:c.3507+159G>A MANE Select	NP_005135.2:n.3507+159G>A