Canonical Allele Identifier: CA173489770

Gene: HR

Linked Data

• dbSNP Id: rs1043402747
• gnomAD v2: 8-21974153-C-A
• gnomAD v3: 8-22116640-C-A
• gnomAD v4: 8-22116640-C-A
• MyVariant Identifiers: chr8:g.21974153C>A (hg19) ; chr8:g.22116640C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116640C>A , CM000670.2:g.22116640C>A	GRCh38
NC_000008.10:g.21974153C>A , CM000670.1:g.21974153C>A	GRCh37
NC_000008.9:g.22030098C>A	NCBI36
NG_008166.1:g.18878G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-212G>T MANE Select	ENSP00000370826.4:n.3379-212G>T
ENST00000680789.1:c.3379-212G>T	ENSP00000505181.1:n.3379-212G>T
ENST00000312841.9:c.3214-212G>T	ENSP00000326765.8:n.3214-212G>T
ENST00000381418.8:c.3379-212G>T	ENSP00000370826.4:n.3379-212G>T
ENST00000522016.1:n.1572-212G>T
NM_005144.4:c.3379-212G>T	NP_005135.2:n.3379-212G>T
NM_018411.4:c.3214-212G>T	NP_060881.2:n.3214-212G>T
XM_005273569.1:c.3382-212G>T	XP_005273626.1:n.3382-212G>T
XM_006716367.1:c.3217-212G>T	XP_006716430.1:n.3217-212G>T
XM_005273569.2:c.3382-212G>T	XP_005273626.1:n.3382-212G>T
XM_006716367.2:c.3217-212G>T	XP_006716430.1:n.3217-212G>T
NM_005144.5:c.3379-212G>T MANE Select	NP_005135.2:n.3379-212G>T