Canonical Allele Identifier: CA360956828

Gene: RAD50

Linked Data

• gnomAD v4: 5-132604953-C-G
• MyVariant Identifiers: chr5:g.131940645C>G (hg19) ; chr5:g.132604953C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604953C>G , CM000667.2:g.132604953C>G	GRCh38
NC_000005.9:g.131940645C>G , CM000667.1:g.131940645C>G	GRCh37
NC_000005.8:g.131968544C>G	NCBI36
NG_021151.1:g.53030C>G
NG_021151.2:g.52977C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2672C>G MANE Select	ENSP00000368100.4:p.Thr891Ser
ENST00000638452.2:c.2375C>G	ENSP00000492349.2:p.Thr792Ser
ENST00000638504.1:n.2280C>G
ENST00000638568.2:c.2375C>G	ENSP00000491158.2:p.Thr792Ser
ENST00000639899.1:n.3191C>G
ENST00000640655.2:c.2375C>G	ENSP00000491596.2:p.Thr792Ser
ENST00000651160.1:c.*816C>G	ENSP00000498829.1:n.*816C>G
ENST00000651723.1:c.*2755C>G	ENSP00000498237.1:n.*2755C>G
ENST00000652016.1:c.*889C>G	ENSP00000498267.1:n.*889C>G
ENST00000378823.7:c.2672C>G	ENSP00000368100.4:p.Thr891Ser
ENST00000423956.5:c.*858C>G	ENSP00000390971.1:n.*858C>G
ENST00000533482.5:c.*2298C>G	ENSP00000431225.1:n.*2298C>G
NM_005732.3:c.2672C>G	NP_005723.2:p.Thr891Ser
NM_005732.4:c.2672C>G MANE Select	NP_005723.2:p.Thr891Ser