Canonical Allele Identifier: CA360960764

Gene: RAD50

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2990T>C MANE Select	ENSP00000368100.4:p.Ile997Thr
ENST00000638452.2:c.2693T>C	ENSP00000492349.2:p.Ile898Thr
ENST00000638504.1:n.2598T>C
ENST00000638568.2:c.2693T>C	ENSP00000491158.2:p.Ile898Thr
ENST00000639899.1:n.3509T>C
ENST00000640655.2:c.2693T>C	ENSP00000491596.2:p.Ile898Thr
ENST00000651723.1:c.*3073T>C	ENSP00000498237.1:n.*3073T>C
ENST00000378823.7:c.2990T>C	ENSP00000368100.4:p.Ile997Thr
ENST00000533482.5:c.*2616T>C	ENSP00000431225.1:n.*2616T>C
NM_005732.3:c.2990T>C	NP_005723.2:p.Ile997Thr
NM_005732.4:c.2990T>C MANE Select	NP_005723.2:p.Ile997Thr