Canonical Allele Identifier: CA360956822

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940643G>C (hg19) ; chr5:g.132604951G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604951G>C , CM000667.2:g.132604951G>C	GRCh38
NC_000005.9:g.131940643G>C , CM000667.1:g.131940643G>C	GRCh37
NC_000005.8:g.131968542G>C	NCBI36
NG_021151.1:g.53028G>C
NG_021151.2:g.52975G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2670G>C MANE Select	ENSP00000368100.4:p.Gln890His
ENST00000638452.2:c.2373G>C	ENSP00000492349.2:p.Gln791His
ENST00000638504.1:n.2278G>C
ENST00000638568.2:c.2373G>C	ENSP00000491158.2:p.Gln791His
ENST00000639899.1:n.3189G>C
ENST00000640655.2:c.2373G>C	ENSP00000491596.2:p.Gln791His
ENST00000651160.1:c.*814G>C	ENSP00000498829.1:n.*814G>C
ENST00000651723.1:c.*2753G>C	ENSP00000498237.1:n.*2753G>C
ENST00000652016.1:c.*887G>C	ENSP00000498267.1:n.*887G>C
ENST00000378823.7:c.2670G>C	ENSP00000368100.4:p.Gln890His
ENST00000423956.5:c.*856G>C	ENSP00000390971.1:n.*856G>C
ENST00000533482.5:c.*2296G>C	ENSP00000431225.1:n.*2296G>C
NM_005732.3:c.2670G>C	NP_005723.2:p.Gln890His
NM_005732.4:c.2670G>C MANE Select	NP_005723.2:p.Gln890His