Canonical Allele Identifier: CA360956923

Gene: RAD50

Linked Data

• gnomAD v4: 5-132604976-C-A
• MyVariant Identifiers: chr5:g.131940668C>A (hg19) ; chr5:g.132604976C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604976C>A , CM000667.2:g.132604976C>A	GRCh38
NC_000005.9:g.131940668C>A , CM000667.1:g.131940668C>A	GRCh37
NC_000005.8:g.131968567C>A	NCBI36
NG_021151.1:g.53053C>A
NG_021151.2:g.53000C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2695C>A MANE Select	ENSP00000368100.4:p.Gln899Lys
ENST00000638452.2:c.2398C>A	ENSP00000492349.2:p.Gln800Lys
ENST00000638504.1:n.2303C>A
ENST00000638568.2:c.2398C>A	ENSP00000491158.2:p.Gln800Lys
ENST00000639899.1:n.3214C>A
ENST00000640655.2:c.2398C>A	ENSP00000491596.2:p.Gln800Lys
ENST00000651160.1:c.*839C>A	ENSP00000498829.1:n.*839C>A
ENST00000651723.1:c.*2778C>A	ENSP00000498237.1:n.*2778C>A
ENST00000652016.1:c.*912C>A	ENSP00000498267.1:n.*912C>A
ENST00000378823.7:c.2695C>A	ENSP00000368100.4:p.Gln899Lys
ENST00000423956.5:c.*881C>A	ENSP00000390971.1:n.*881C>A
ENST00000533482.5:c.*2321C>A	ENSP00000431225.1:n.*2321C>A
NM_005732.3:c.2695C>A	NP_005723.2:p.Gln899Lys
NM_005732.4:c.2695C>A MANE Select	NP_005723.2:p.Gln899Lys