Canonical Allele Identifier: CA360960758

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131945042T>A (hg19) ; chr5:g.132609350T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609350T>A , CM000667.2:g.132609350T>A	GRCh38
NC_000005.9:g.131945042T>A , CM000667.1:g.131945042T>A	GRCh37
NC_000005.8:g.131972941T>A	NCBI36
NG_021151.1:g.57427T>A
NG_021151.2:g.57374T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2990T>A MANE Select	ENSP00000368100.4:p.Ile997Lys
ENST00000638452.2:c.2693T>A	ENSP00000492349.2:p.Ile898Lys
ENST00000638504.1:n.2598T>A
ENST00000638568.2:c.2693T>A	ENSP00000491158.2:p.Ile898Lys
ENST00000639899.1:n.3509T>A
ENST00000640655.2:c.2693T>A	ENSP00000491596.2:p.Ile898Lys
ENST00000651723.1:c.*3073T>A	ENSP00000498237.1:n.*3073T>A
ENST00000378823.7:c.2990T>A	ENSP00000368100.4:p.Ile997Lys
ENST00000533482.5:c.*2616T>A	ENSP00000431225.1:n.*2616T>A
NM_005732.3:c.2990T>A	NP_005723.2:p.Ile997Lys
NM_005732.4:c.2990T>A MANE Select	NP_005723.2:p.Ile997Lys