Canonical Allele Identifier: CA370514145

Gene: HR

Linked Data

• MyVariant Identifiers: chr8:g.21973923T>C (hg19) ; chr8:g.22116410T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116410T>C , CM000670.2:g.22116410T>C	GRCh38
NC_000008.10:g.21973923T>C , CM000670.1:g.21973923T>C	GRCh37
NC_000008.9:g.22029868T>C	NCBI36
NG_008166.1:g.19108A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381418.9:c.3397A>G MANE Select	ENSP00000370826.4:p.Thr1133Ala
ENST00000680789.1:c.3397A>G	ENSP00000505181.1:p.Thr1133Ala
ENST00000312841.9:c.3232A>G	ENSP00000326765.8:p.Thr1078Ala
ENST00000381418.8:c.3397A>G	ENSP00000370826.4:p.Thr1133Ala
ENST00000522016.1:n.1590A>G
NM_005144.4:c.3397A>G	NP_005135.2:p.Thr1133Ala
NM_018411.4:c.3232A>G	NP_060881.2:p.Thr1078Ala
XM_005273569.1:c.3400A>G	XP_005273626.1:p.Thr1134Ala
XM_006716367.1:c.3235A>G	XP_006716430.1:p.Thr1079Ala
XM_005273569.2:c.3400A>G	XP_005273626.1:p.Thr1134Ala
XM_006716367.2:c.3235A>G	XP_006716430.1:p.Thr1079Ala
NM_005144.5:c.3397A>G MANE Select	NP_005135.2:p.Thr1133Ala