Canonical Allele Identifier: CA3405281

Gene: RAD50

Linked Data

• dbSNP Id: rs780187796
• ExAC: 5:131930583 C / T
• gnomAD v2: 5-131930583-C-T
• MyVariant Identifiers: chr5:g.131930583C>T (hg19) ; chr5:g.132594891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594891C>T , CM000667.2:g.132594891C>T	GRCh38
NC_000005.9:g.131930583C>T , CM000667.1:g.131930583C>T	GRCh37
NC_000005.8:g.131958482C>T	NCBI36
NG_021151.1:g.42968C>T
NG_021151.2:g.42915C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1816C>T MANE Select	ENSP00000368100.4:p.Gln606Ter
ENST00000638452.2:c.1519C>T	ENSP00000492349.2:p.Gln507Ter
ENST00000638504.1:n.1480-213C>T
ENST00000638568.2:c.1519C>T	ENSP00000491158.2:p.Gln507Ter
ENST00000639899.1:n.2335C>T
ENST00000640655.2:c.1519C>T	ENSP00000491596.2:p.Gln507Ter
ENST00000651160.1:c.*16-213C>T	ENSP00000498829.1:n.*16-213C>T
ENST00000651658.1:n.2359C>T
ENST00000651723.1:c.*1899C>T	ENSP00000498237.1:n.*1899C>T
ENST00000652016.1:c.*89-213C>T	ENSP00000498267.1:n.*89-213C>T
ENST00000652485.1:c.1849C>T	ENSP00000498973.1:p.Gln617Ter
ENST00000378823.7:c.1816C>T	ENSP00000368100.4:p.Gln606Ter
ENST00000423956.5:c.*2C>T	ENSP00000390971.1:n.*2C>T
ENST00000453394.5:c.1633C>T	ENSP00000400049.1:p.Gln545Ter
ENST00000533482.5:c.*1442C>T	ENSP00000431225.1:n.*1442C>T
NM_005732.3:c.1816C>T	NP_005723.2:p.Gln606Ter
NM_005732.4:c.1816C>T MANE Select	NP_005723.2:p.Gln606Ter