Canonical Allele Identifier: CA2675217809

Gene: RAD50

Linked Data

• gnomAD v4: 5-132604769-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604769C>T , CM000667.2:g.132604769C>T	GRCh38
NC_000005.9:g.131940461C>T , CM000667.1:g.131940461C>T	GRCh37
NC_000005.8:g.131968360C>T	NCBI36
NG_021151.1:g.52846C>T
NG_021151.2:g.52793C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2525-37C>T MANE Select	ENSP00000368100.4:n.2525-37C>T
ENST00000638452.2:c.2228-37C>T	ENSP00000492349.2:n.2228-37C>T
ENST00000638504.1:n.2133-37C>T
ENST00000638568.2:c.2228-37C>T	ENSP00000491158.2:n.2228-37C>T
ENST00000639899.1:n.3044-37C>T
ENST00000640655.2:c.2228-37C>T	ENSP00000491596.2:n.2228-37C>T
ENST00000651160.1:c.*669-37C>T	ENSP00000498829.1:n.*669-37C>T
ENST00000651723.1:c.*2608-37C>T	ENSP00000498237.1:n.*2608-37C>T
ENST00000652016.1:c.*742-37C>T	ENSP00000498267.1:n.*742-37C>T
ENST00000652485.1:c.2558-37C>T	ENSP00000498973.1:n.2558-37C>T
ENST00000378823.7:c.2525-37C>T	ENSP00000368100.4:n.2525-37C>T
ENST00000423956.5:c.*711-37C>T	ENSP00000390971.1:n.*711-37C>T
ENST00000533482.5:c.*2151-37C>T	ENSP00000431225.1:n.*2151-37C>T
NM_005732.3:c.2525-37C>T	NP_005723.2:n.2525-37C>T
NM_005732.4:c.2525-37C>T MANE Select	NP_005723.2:n.2525-37C>T