Canonical Allele Identifier: CA2686436769

Gene: HR

Linked Data

• gnomAD v4: 8-22123629-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123629A>G , CM000670.2:g.22123629A>G	GRCh38
NC_000008.10:g.21981142A>G , CM000670.1:g.21981142A>G	GRCh37
NC_000008.9:g.22037087A>G	NCBI36
NG_008166.1:g.11889T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381418.9:c.1915+20T>C MANE Select	ENSP00000370826.4:n.1915+20T>C
ENST00000680789.1:c.1915+20T>C	ENSP00000505181.1:n.1915+20T>C
ENST00000312841.9:c.1915+20T>C	ENSP00000326765.8:n.1915+20T>C
ENST00000381418.8:c.1915+20T>C	ENSP00000370826.4:n.1915+20T>C
NM_005144.4:c.1915+20T>C	NP_005135.2:n.1915+20T>C
NM_018411.4:c.1915+20T>C	NP_060881.2:n.1915+20T>C
XM_005273569.1:c.1918+20T>C	XP_005273626.1:n.1918+20T>C
XM_006716367.1:c.1918+20T>C	XP_006716430.1:n.1918+20T>C
XM_005273569.2:c.1918+20T>C	XP_005273626.1:n.1918+20T>C
XM_006716367.2:c.1918+20T>C	XP_006716430.1:n.1918+20T>C
NM_005144.5:c.1915+20T>C MANE Select	NP_005135.2:n.1915+20T>C