Canonical Allele Identifier: CA360956482

Gene: RAD50

Linked Data

• gnomAD v4: 5-132604874-A-T
• MyVariant Identifiers: chr5:g.131940566A>T (hg19) ; chr5:g.132604874A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604874A>T , CM000667.2:g.132604874A>T	GRCh38
NC_000005.9:g.131940566A>T , CM000667.1:g.131940566A>T	GRCh37
NC_000005.8:g.131968465A>T	NCBI36
NG_021151.1:g.52951A>T
NG_021151.2:g.52898A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2593A>T MANE Select	ENSP00000368100.4:p.Ser865Cys
ENST00000638452.2:c.2296A>T	ENSP00000492349.2:p.Ser766Cys
ENST00000638504.1:n.2201A>T
ENST00000638568.2:c.2296A>T	ENSP00000491158.2:p.Ser766Cys
ENST00000639899.1:n.3112A>T
ENST00000640655.2:c.2296A>T	ENSP00000491596.2:p.Ser766Cys
ENST00000651160.1:c.*737A>T	ENSP00000498829.1:n.*737A>T
ENST00000651723.1:c.*2676A>T	ENSP00000498237.1:n.*2676A>T
ENST00000652016.1:c.*810A>T	ENSP00000498267.1:n.*810A>T
ENST00000652485.1:c.2626A>T	ENSP00000498973.1:p.Ser876Cys
ENST00000378823.7:c.2593A>T	ENSP00000368100.4:p.Ser865Cys
ENST00000423956.5:c.*779A>T	ENSP00000390971.1:n.*779A>T
ENST00000533482.5:c.*2219A>T	ENSP00000431225.1:n.*2219A>T
NM_005732.3:c.2593A>T	NP_005723.2:p.Ser865Cys
NM_005732.4:c.2593A>T MANE Select	NP_005723.2:p.Ser865Cys