Canonical Allele Identifier: CA360960785

Gene: RAD50

Linked Data

• gnomAD v4: 5-132609353-A-G
• MyVariant Identifiers: chr5:g.131945045A>G (hg19) ; chr5:g.132609353A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609353A>G , CM000667.2:g.132609353A>G	GRCh38
NC_000005.9:g.131945045A>G , CM000667.1:g.131945045A>G	GRCh37
NC_000005.8:g.131972944A>G	NCBI36
NG_021151.1:g.57430A>G
NG_021151.2:g.57377A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2993A>G MANE Select	ENSP00000368100.4:p.Asn998Ser
ENST00000638452.2:c.2696A>G	ENSP00000492349.2:p.Asn899Ser
ENST00000638504.1:n.2601A>G
ENST00000638568.2:c.2696A>G	ENSP00000491158.2:p.Asn899Ser
ENST00000639899.1:n.3512A>G
ENST00000640655.2:c.2696A>G	ENSP00000491596.2:p.Asn899Ser
ENST00000651723.1:c.*3076A>G	ENSP00000498237.1:n.*3076A>G
ENST00000378823.7:c.2993A>G	ENSP00000368100.4:p.Asn998Ser
ENST00000533482.5:c.*2619A>G	ENSP00000431225.1:n.*2619A>G
NM_005732.3:c.2993A>G	NP_005723.2:p.Asn998Ser
NM_005732.4:c.2993A>G MANE Select	NP_005723.2:p.Asn998Ser