Canonical Allele Identifier: CA1770267664

Gene: HR

Linked Data

• dbSNP Id: rs1586379105
• gnomAD v4: 8-22123631-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123631C>A , CM000670.2:g.22123631C>A	GRCh38
NC_000008.10:g.21981144C>A , CM000670.1:g.21981144C>A	GRCh37
NC_000008.9:g.22037089C>A	NCBI36
NG_008166.1:g.11887G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381418.9:c.1915+18G>T MANE Select	ENSP00000370826.4:n.1915+18G>T
ENST00000680789.1:c.1915+18G>T	ENSP00000505181.1:n.1915+18G>T
ENST00000312841.9:c.1915+18G>T	ENSP00000326765.8:n.1915+18G>T
ENST00000381418.8:c.1915+18G>T	ENSP00000370826.4:n.1915+18G>T
NM_005144.4:c.1915+18G>T	NP_005135.2:n.1915+18G>T
NM_018411.4:c.1915+18G>T	NP_060881.2:n.1915+18G>T
XM_005273569.1:c.1918+18G>T	XP_005273626.1:n.1918+18G>T
XM_006716367.1:c.1918+18G>T	XP_006716430.1:n.1918+18G>T
XM_005273569.2:c.1918+18G>T	XP_005273626.1:n.1918+18G>T
XM_006716367.2:c.1918+18G>T	XP_006716430.1:n.1918+18G>T
NM_005144.5:c.1915+18G>T MANE Select	NP_005135.2:n.1915+18G>T