Canonical Allele Identifier: CA210692

Gene: HR

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22119197T>C , CM000670.2:g.22119197T>C	GRCh38
NC_000008.10:g.21976710T>C , CM000670.1:g.21976710T>C	GRCh37
NC_000008.9:g.22032655T>C	NCBI36
NG_008166.1:g.16321A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005144.5:c.3064A>G MANE Select	NP_005135.2:p.Thr1022Ala
ENST00000381418.9:c.3064A>G MANE Select	ENSP00000370826.4:p.Thr1022Ala
NM_005144.4:c.3064A>G	NP_005135.2:p.Thr1022Ala
NM_018411.4:c.3064A>G	NP_060881.2:p.Thr1022Ala
ENST00000312841.9:c.3064A>G	ENSP00000326765.8:p.Thr1022Ala
ENST00000381418.8:c.3064A>G	ENSP00000370826.4:p.Thr1022Ala
ENST00000522039.1:n.196A>G
ENST00000680789.1:c.3064A>G	ENSP00000505181.1:p.Thr1022Ala
XM_005273569.1:c.3067A>G	XP_005273626.1:p.Thr1023Ala
XM_005273569.2:c.3067A>G	XP_005273626.1:p.Thr1023Ala
XM_006716367.1:c.3067A>G	XP_006716430.1:p.Thr1023Ala
XM_006716367.2:c.3067A>G	XP_006716430.1:p.Thr1023Ala