Canonical Allele Identifier: CA360956512

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940573C>A (hg19) ; chr5:g.132604881C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604881C>A , CM000667.2:g.132604881C>A	GRCh38
NC_000005.9:g.131940573C>A , CM000667.1:g.131940573C>A	GRCh37
NC_000005.8:g.131968472C>A	NCBI36
NG_021151.1:g.52958C>A
NG_021151.2:g.52905C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2600C>A MANE Select	ENSP00000368100.4:p.Thr867Lys
ENST00000638452.2:c.2303C>A	ENSP00000492349.2:p.Thr768Lys
ENST00000638504.1:n.2208C>A
ENST00000638568.2:c.2303C>A	ENSP00000491158.2:p.Thr768Lys
ENST00000639899.1:n.3119C>A
ENST00000640655.2:c.2303C>A	ENSP00000491596.2:p.Thr768Lys
ENST00000651160.1:c.*744C>A	ENSP00000498829.1:n.*744C>A
ENST00000651723.1:c.*2683C>A	ENSP00000498237.1:n.*2683C>A
ENST00000652016.1:c.*817C>A	ENSP00000498267.1:n.*817C>A
ENST00000652485.1:c.2633C>A	ENSP00000498973.1:p.Thr878Lys
ENST00000378823.7:c.2600C>A	ENSP00000368100.4:p.Thr867Lys
ENST00000423956.5:c.*786C>A	ENSP00000390971.1:n.*786C>A
ENST00000533482.5:c.*2226C>A	ENSP00000431225.1:n.*2226C>A
NM_005732.3:c.2600C>A	NP_005723.2:p.Thr867Lys
NM_005732.4:c.2600C>A MANE Select	NP_005723.2:p.Thr867Lys