Canonical Allele Identifier: CA360956718

Gene: RAD50

Linked Data

• dbSNP Id: rs138749920
• MyVariant Identifiers: chr5:g.131940620C>A (hg19) ; chr5:g.132604928C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604928C>A , CM000667.2:g.132604928C>A	GRCh38
NC_000005.9:g.131940620C>A , CM000667.1:g.131940620C>A	GRCh37
NC_000005.8:g.131968519C>A	NCBI36
NG_021151.1:g.53005C>A
NG_021151.2:g.52952C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2647C>A MANE Select	ENSP00000368100.4:p.Arg883Ser
ENST00000638452.2:c.2350C>A	ENSP00000492349.2:p.Arg784Ser
ENST00000638504.1:n.2255C>A
ENST00000638568.2:c.2350C>A	ENSP00000491158.2:p.Arg784Ser
ENST00000639899.1:n.3166C>A
ENST00000640655.2:c.2350C>A	ENSP00000491596.2:p.Arg784Ser
ENST00000651160.1:c.*791C>A	ENSP00000498829.1:n.*791C>A
ENST00000651723.1:c.*2730C>A	ENSP00000498237.1:n.*2730C>A
ENST00000652016.1:c.*864C>A	ENSP00000498267.1:n.*864C>A
ENST00000652485.1:c.2680C>A	ENSP00000498973.1:p.Arg894Ser
ENST00000378823.7:c.2647C>A	ENSP00000368100.4:p.Arg883Ser
ENST00000423956.5:c.*833C>A	ENSP00000390971.1:n.*833C>A
ENST00000533482.5:c.*2273C>A	ENSP00000431225.1:n.*2273C>A
NM_005732.3:c.2647C>A	NP_005723.2:p.Arg883Ser
NM_005732.4:c.2647C>A MANE Select	NP_005723.2:p.Arg883Ser