Canonical Allele Identifier: CA360956619

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940597T>C (hg19) ; chr5:g.132604905T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604905T>C , CM000667.2:g.132604905T>C	GRCh38
NC_000005.9:g.131940597T>C , CM000667.1:g.131940597T>C	GRCh37
NC_000005.8:g.131968496T>C	NCBI36
NG_021151.1:g.52982T>C
NG_021151.2:g.52929T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2624T>C MANE Select	ENSP00000368100.4:p.Leu875Pro
ENST00000638452.2:c.2327T>C	ENSP00000492349.2:p.Leu776Pro
ENST00000638504.1:n.2232T>C
ENST00000638568.2:c.2327T>C	ENSP00000491158.2:p.Leu776Pro
ENST00000639899.1:n.3143T>C
ENST00000640655.2:c.2327T>C	ENSP00000491596.2:p.Leu776Pro
ENST00000651160.1:c.*768T>C	ENSP00000498829.1:n.*768T>C
ENST00000651723.1:c.*2707T>C	ENSP00000498237.1:n.*2707T>C
ENST00000652016.1:c.*841T>C	ENSP00000498267.1:n.*841T>C
ENST00000652485.1:c.2657T>C	ENSP00000498973.1:p.Leu886Pro
ENST00000378823.7:c.2624T>C	ENSP00000368100.4:p.Leu875Pro
ENST00000423956.5:c.*810T>C	ENSP00000390971.1:n.*810T>C
ENST00000533482.5:c.*2250T>C	ENSP00000431225.1:n.*2250T>C
NM_005732.3:c.2624T>C	NP_005723.2:p.Leu875Pro
NM_005732.4:c.2624T>C MANE Select	NP_005723.2:p.Leu875Pro