Canonical Allele Identifier: CA360956932

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940670G>C (hg19) ; chr5:g.132604978G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604978G>C , CM000667.2:g.132604978G>C	GRCh38
NC_000005.9:g.131940670G>C , CM000667.1:g.131940670G>C	GRCh37
NC_000005.8:g.131968569G>C	NCBI36
NG_021151.1:g.53055G>C
NG_021151.2:g.53002G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2697G>C MANE Select	ENSP00000368100.4:p.Gln899His
ENST00000638452.2:c.2400G>C	ENSP00000492349.2:p.Gln800His
ENST00000638504.1:n.2305G>C
ENST00000638568.2:c.2400G>C	ENSP00000491158.2:p.Gln800His
ENST00000639899.1:n.3216G>C
ENST00000640655.2:c.2400G>C	ENSP00000491596.2:p.Gln800His
ENST00000651160.1:c.*841G>C	ENSP00000498829.1:n.*841G>C
ENST00000651723.1:c.*2780G>C	ENSP00000498237.1:n.*2780G>C
ENST00000652016.1:c.*914G>C	ENSP00000498267.1:n.*914G>C
ENST00000378823.7:c.2697G>C	ENSP00000368100.4:p.Gln899His
ENST00000423956.5:c.*883G>C	ENSP00000390971.1:n.*883G>C
ENST00000533482.5:c.*2323G>C	ENSP00000431225.1:n.*2323G>C
NM_005732.3:c.2697G>C	NP_005723.2:p.Gln899His
NM_005732.4:c.2697G>C MANE Select	NP_005723.2:p.Gln899His