Canonical Allele Identifier: CA360964754

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131953895G>C (hg19) ; chr5:g.132618203G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618203G>C , CM000667.2:g.132618203G>C	GRCh38
NC_000005.9:g.131953895G>C , CM000667.1:g.131953895G>C	GRCh37
NC_000005.8:g.131981794G>C	NCBI36
NG_021151.1:g.66280G>C
NG_021151.2:g.66227G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3298G>C MANE Select	ENSP00000368100.4:p.Ala1100Pro
ENST00000638452.2:c.3001G>C	ENSP00000492349.2:p.Ala1001Pro
ENST00000638504.1:n.2906G>C
ENST00000638568.2:c.3001G>C	ENSP00000491158.2:p.Ala1001Pro
ENST00000639899.1:n.3817G>C
ENST00000640655.2:c.3001G>C	ENSP00000491596.2:p.Ala1001Pro
ENST00000651249.1:c.134G>C
ENST00000378823.7:c.3298G>C	ENSP00000368100.4:p.Ala1100Pro
ENST00000533482.5:c.*2924G>C	ENSP00000431225.1:n.*2924G>C
NM_005732.3:c.3298G>C	NP_005723.2:p.Ala1100Pro
NM_005732.4:c.3298G>C MANE Select	NP_005723.2:p.Ala1100Pro