Canonical Allele Identifier: CA2686436783
Gene: HR HGNC NCBI

Linked Data

gnomAD v4: 8-22123636-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22123636G>T , CM000670.2:g.22123636G>T GRCh38
NC_000008.10:g.21981149G>T , CM000670.1:g.21981149G>T GRCh37
NC_000008.9:g.22037094G>T NCBI36
NG_008166.1:g.11882C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381418.9:c.1915+13C>A MANE Select ENSP00000370826.4:n.1915+13C>A
ENST00000680789.1:c.1915+13C>A ENSP00000505181.1:n.1915+13C>A
ENST00000312841.9:c.1915+13C>A ENSP00000326765.8:n.1915+13C>A
ENST00000381418.8:c.1915+13C>A ENSP00000370826.4:n.1915+13C>A
NM_005144.4:c.1915+13C>A NP_005135.2:n.1915+13C>A
NM_018411.4:c.1915+13C>A NP_060881.2:n.1915+13C>A
XM_005273569.1:c.1918+13C>A XP_005273626.1:n.1918+13C>A
XM_006716367.1:c.1918+13C>A XP_006716430.1:n.1918+13C>A
XM_005273569.2:c.1918+13C>A XP_005273626.1:n.1918+13C>A
XM_006716367.2:c.1918+13C>A XP_006716430.1:n.1918+13C>A
NM_005144.5:c.1915+13C>A MANE Select NP_005135.2:n.1915+13C>A
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