Canonical Allele Identifier: CA360965066

Gene: RAD50

Linked Data

• gnomAD v4: 5-132618290-G-T
• MyVariant Identifiers: chr5:g.131953982G>T (hg19) ; chr5:g.132618290G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618290G>T , CM000667.2:g.132618290G>T	GRCh38
NC_000005.9:g.131953982G>T , CM000667.1:g.131953982G>T	GRCh37
NC_000005.8:g.131981881G>T	NCBI36
NG_021151.1:g.66367G>T
NG_021151.2:g.66314G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3385G>T MANE Select	ENSP00000368100.4:p.Asp1129Tyr
ENST00000638452.2:c.3088G>T	ENSP00000492349.2:p.Asp1030Tyr
ENST00000638504.1:n.2993G>T
ENST00000638568.2:c.3088G>T	ENSP00000491158.2:p.Asp1030Tyr
ENST00000639899.1:n.3904G>T
ENST00000640655.2:c.3088G>T	ENSP00000491596.2:p.Asp1030Tyr
ENST00000651249.1:c.221G>T
ENST00000378823.7:c.3385G>T	ENSP00000368100.4:p.Asp1129Tyr
ENST00000455677.1:c.20G>T
ENST00000533482.5:c.*3011G>T	ENSP00000431225.1:n.*3011G>T
NM_005732.3:c.3385G>T	NP_005723.2:p.Asp1129Tyr
NM_005732.4:c.3385G>T MANE Select	NP_005723.2:p.Asp1129Tyr