Canonical Allele Identifier: CA360934633

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2008796
• ClinVar RCV Id: RCV002828885
• MyVariant Identifiers: chr5:g.131915140T>A (hg19) ; chr5:g.132579448T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579448T>A , CM000667.2:g.132579448T>A	GRCh38
NC_000005.9:g.131915140T>A , CM000667.1:g.131915140T>A	GRCh37
NC_000005.8:g.131943039T>A	NCBI36
NG_021151.1:g.27525T>A
NG_021151.2:g.27472T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.497T>A MANE Select	ENSP00000368100.4:p.Leu166Ter
ENST00000638452.2:c.200T>A	ENSP00000492349.2:p.Leu67Ter
ENST00000638504.1:n.442+3520T>A
ENST00000638568.2:c.200T>A	ENSP00000491158.2:p.Leu67Ter
ENST00000639899.1:n.657T>A
ENST00000640655.2:c.200T>A	ENSP00000491596.2:p.Leu67Ter
ENST00000651160.1:c.497T>A	ENSP00000498829.1:p.Leu166Ter
ENST00000651541.1:c.200T>A	ENSP00000498795.1:p.Leu67Ter
ENST00000651658.1:n.565T>A
ENST00000651723.1:c.*580T>A	ENSP00000498237.1:n.*580T>A
ENST00000652016.1:c.497T>A	ENSP00000498267.1:p.Leu166Ter
ENST00000652485.1:c.497T>A	ENSP00000498973.1:p.Leu166Ter
ENST00000378823.7:c.497T>A	ENSP00000368100.4:p.Leu166Ter
ENST00000416135.5:c.200T>A	ENSP00000389515.1:p.Leu67Ter
ENST00000423956.5:c.497T>A	ENSP00000390971.1:p.Leu166Ter
ENST00000453394.5:c.497T>A	ENSP00000400049.1:p.Leu166Ter
ENST00000533482.5:c.*123T>A	ENSP00000431225.1:n.*123T>A
NM_005732.3:c.497T>A	NP_005723.2:p.Leu166Ter
NM_005732.4:c.497T>A MANE Select	NP_005723.2:p.Leu166Ter