Canonical Allele Identifier: CA446364171

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940691G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604999G>A , CM000667.2:g.132604999G>A	GRCh38
NC_000005.9:g.131940691G>A , CM000667.1:g.131940691G>A	GRCh37
NC_000005.8:g.131968590G>A	NCBI36
NG_021151.1:g.53076G>A
NG_021151.2:g.53023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2718G>A MANE Select	ENSP00000368100.4:p.Lys906=
ENST00000638452.2:c.2421G>A	ENSP00000492349.2:p.Lys807=
ENST00000638504.1:n.2326G>A
ENST00000638568.2:c.2421G>A	ENSP00000491158.2:p.Lys807=
ENST00000639899.1:n.3237G>A
ENST00000640655.2:c.2421G>A	ENSP00000491596.2:p.Lys807=
ENST00000651160.1:c.*862G>A	ENSP00000498829.1:n.*862G>A
ENST00000651723.1:c.*2801G>A	ENSP00000498237.1:n.*2801G>A
ENST00000652016.1:c.*935G>A	ENSP00000498267.1:n.*935G>A
ENST00000378823.7:c.2718G>A	ENSP00000368100.4:p.Lys906=
ENST00000423956.5:c.*904G>A	ENSP00000390971.1:n.*904G>A
ENST00000533482.5:c.*2344G>A	ENSP00000431225.1:n.*2344G>A
NM_005732.3:c.2718G>A	NP_005723.2:p.Lys906=
NM_005732.4:c.2718G>A MANE Select	NP_005723.2:p.Lys906=