Canonical Allele Identifier: CA563057425

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2755559
• ClinVar RCV Id: RCV003584275
• dbSNP Id: rs1171199625
• gnomAD v2: 5-131944957-G-C
• gnomAD v3: 5-132609265-G-C
• gnomAD v4: 5-132609265-G-C
• MyVariant Identifiers: chr5:g.131944957G>C (hg19) ; chr5:g.132609265G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609265G>C , CM000667.2:g.132609265G>C	GRCh38
NC_000005.9:g.131944957G>C , CM000667.1:g.131944957G>C	GRCh37
NC_000005.8:g.131972856G>C	NCBI36
NG_021151.1:g.57342G>C
NG_021151.2:g.57289G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2923-18G>C MANE Select	ENSP00000368100.4:n.2923-18G>C
ENST00000638452.2:c.2626-18G>C	ENSP00000492349.2:n.2626-18G>C
ENST00000638504.1:n.2531-18G>C
ENST00000638568.2:c.2626-18G>C	ENSP00000491158.2:n.2626-18G>C
ENST00000639899.1:n.3442-18G>C
ENST00000640655.2:c.2626-18G>C	ENSP00000491596.2:n.2626-18G>C
ENST00000651160.1:c.*1067-18G>C	ENSP00000498829.1:n.*1067-18G>C
ENST00000651723.1:c.*3006-18G>C	ENSP00000498237.1:n.*3006-18G>C
ENST00000378823.7:c.2923-18G>C	ENSP00000368100.4:n.2923-18G>C
ENST00000423956.5:c.*1109-18G>C	ENSP00000390971.1:n.*1109-18G>C
ENST00000533482.5:c.*2549-18G>C	ENSP00000431225.1:n.*2549-18G>C
NM_005732.3:c.2923-18G>C	NP_005723.2:n.2923-18G>C
NM_005732.4:c.2923-18G>C MANE Select	NP_005723.2:n.2923-18G>C