Canonical Allele Identifier: CA360955961

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131939735A>G (hg19) ; chr5:g.132604043A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604043A>G , CM000667.2:g.132604043A>G	GRCh38
NC_000005.9:g.131939735A>G , CM000667.1:g.131939735A>G	GRCh37
NC_000005.8:g.131967634A>G	NCBI36
NG_021151.1:g.52120A>G
NG_021151.2:g.52067A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2521A>G MANE Select	ENSP00000368100.4:p.Thr841Ala
ENST00000638452.2:c.2224A>G	ENSP00000492349.2:p.Thr742Ala
ENST00000638504.1:n.2129A>G
ENST00000638568.2:c.2224A>G	ENSP00000491158.2:p.Thr742Ala
ENST00000639899.1:n.3040A>G
ENST00000640655.2:c.2224A>G	ENSP00000491596.2:p.Thr742Ala
ENST00000651160.1:c.*665A>G	ENSP00000498829.1:n.*665A>G
ENST00000651723.1:c.*2604A>G	ENSP00000498237.1:n.*2604A>G
ENST00000652016.1:c.*738A>G	ENSP00000498267.1:n.*738A>G
ENST00000652485.1:c.2554A>G	ENSP00000498973.1:p.Thr852Ala
ENST00000378823.7:c.2521A>G	ENSP00000368100.4:p.Thr841Ala
ENST00000423956.5:c.*707A>G	ENSP00000390971.1:n.*707A>G
ENST00000533482.5:c.*2147A>G	ENSP00000431225.1:n.*2147A>G
NM_005732.3:c.2521A>G	NP_005723.2:p.Thr841Ala
NM_005732.4:c.2521A>G MANE Select	NP_005723.2:p.Thr841Ala