Canonical Allele Identifier: CA127253977

Gene: RAD50

Linked Data

• dbSNP Id: rs958692782
• gnomAD v4: 5-132557246-C-A
• MyVariant Identifiers: chr5:g.131892938C>A (hg19) ; chr5:g.132557246C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557246C>A , CM000667.2:g.132557246C>A	GRCh38
NC_000005.9:g.131892938C>A , CM000667.1:g.131892938C>A	GRCh37
NC_000005.8:g.131920837C>A	NCBI36
NG_021151.1:g.5323C>A
NG_021151.2:g.5270C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.-79C>A MANE Select	ENSP00000368100.4:n.-79C>A
ENST00000638452.2:c.-168-2038C>A	ENSP00000492349.2:n.-168-2038C>A
ENST00000638504.1:n.207-2038C>A
ENST00000638568.2:c.-169+773C>A	ENSP00000491158.2:n.-169+773C>A
ENST00000639899.1:n.290-2038C>A
ENST00000640655.2:c.-168-2038C>A	ENSP00000491596.2:n.-168-2038C>A
ENST00000651160.1:c.-79C>A	ENSP00000498829.1:n.-79C>A
ENST00000651541.1:c.-169+237C>A	ENSP00000498795.1:n.-169+237C>A
ENST00000651723.1:c.-79C>A	ENSP00000498237.1:n.-79C>A
ENST00000652016.1:c.-79C>A	ENSP00000498267.1:n.-79C>A
ENST00000652485.1:c.-79C>A	ENSP00000498973.1:n.-79C>A
ENST00000378823.7:c.-79C>A	ENSP00000368100.4:n.-79C>A
ENST00000416135.5:c.-169+773C>A	ENSP00000389515.1:n.-169+773C>A
ENST00000423956.5:c.-79C>A	ENSP00000390971.1:n.-79C>A
ENST00000453394.5:c.-79C>A	ENSP00000400049.1:n.-79C>A
ENST00000533482.5:c.-79C>A	ENSP00000431225.1:n.-79C>A
NM_005732.3:c.-79C>A	NP_005723.2:n.-79C>A
NM_005732.4:c.-79C>A MANE Select	NP_005723.2:n.-79C>A