Canonical Allele Identifier: CA360936115

Gene: RAD50

Linked Data

• gnomAD v4: 5-132579953-C-A
• MyVariant Identifiers: chr5:g.131915645C>A (hg19) ; chr5:g.132579953C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579953C>A , CM000667.2:g.132579953C>A	GRCh38
NC_000005.9:g.131915645C>A , CM000667.1:g.131915645C>A	GRCh37
NC_000005.8:g.131943544C>A	NCBI36
NG_021151.1:g.28030C>A
NG_021151.2:g.27977C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.643C>A MANE Select	ENSP00000368100.4:p.Gln215Lys
ENST00000638452.2:c.346C>A	ENSP00000492349.2:p.Gln116Lys
ENST00000638504.1:n.442+4025C>A
ENST00000638568.2:c.346C>A	ENSP00000491158.2:p.Gln116Lys
ENST00000639899.1:n.1162C>A
ENST00000640655.2:c.346C>A	ENSP00000491596.2:p.Gln116Lys
ENST00000651160.1:c.643C>A	ENSP00000498829.1:p.Gln215Lys
ENST00000651541.1:c.346C>A	ENSP00000498795.1:p.Gln116Lys
ENST00000651658.1:n.1070C>A
ENST00000651723.1:c.*726C>A	ENSP00000498237.1:n.*726C>A
ENST00000652016.1:c.643C>A	ENSP00000498267.1:p.Gln215Lys
ENST00000652485.1:c.643C>A	ENSP00000498973.1:p.Gln215Lys
ENST00000378823.7:c.643C>A	ENSP00000368100.4:p.Gln215Lys
ENST00000423956.5:c.643C>A	ENSP00000390971.1:p.Gln215Lys
ENST00000453394.5:c.643C>A	ENSP00000400049.1:p.Gln215Lys
ENST00000487596.1:n.209C>A
ENST00000533482.5:c.*269C>A	ENSP00000431225.1:n.*269C>A
NM_005732.3:c.643C>A	NP_005723.2:p.Gln215Lys
NM_005732.4:c.643C>A MANE Select	NP_005723.2:p.Gln215Lys