Canonical Allele Identifier: CA360960849

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1798714
• ClinVar RCV Id: RCV002435685
• MyVariant Identifiers: chr5:g.131945054T>C (hg19) ; chr5:g.132609362T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609362T>C , CM000667.2:g.132609362T>C	GRCh38
NC_000005.9:g.131945054T>C , CM000667.1:g.131945054T>C	GRCh37
NC_000005.8:g.131972953T>C	NCBI36
NG_021151.1:g.57439T>C
NG_021151.2:g.57386T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3002T>C MANE Select	ENSP00000368100.4:p.Met1001Thr
ENST00000638452.2:c.2705T>C	ENSP00000492349.2:p.Met902Thr
ENST00000638504.1:n.2610T>C
ENST00000638568.2:c.2705T>C	ENSP00000491158.2:p.Met902Thr
ENST00000639899.1:n.3521T>C
ENST00000640655.2:c.2705T>C	ENSP00000491596.2:p.Met902Thr
ENST00000651723.1:c.*3085T>C	ENSP00000498237.1:n.*3085T>C
ENST00000378823.7:c.3002T>C	ENSP00000368100.4:p.Met1001Thr
ENST00000533482.5:c.*2628T>C	ENSP00000431225.1:n.*2628T>C
NM_005732.3:c.3002T>C	NP_005723.2:p.Met1001Thr
NM_005732.4:c.3002T>C MANE Select	NP_005723.2:p.Met1001Thr