Canonical Allele Identifier: CA360946293

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131927576A>C (hg19) ; chr5:g.132591884A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591884A>C , CM000667.2:g.132591884A>C	GRCh38
NC_000005.9:g.131927576A>C , CM000667.1:g.131927576A>C	GRCh37
NC_000005.8:g.131955475A>C	NCBI36
NG_021151.1:g.39961A>C
NG_021151.2:g.39908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1643A>C MANE Select	ENSP00000368100.4:p.Lys548Thr
ENST00000638452.2:c.1346A>C	ENSP00000492349.2:p.Lys449Thr
ENST00000638504.1:n.1329A>C
ENST00000638568.2:c.1346A>C	ENSP00000491158.2:p.Lys449Thr
ENST00000639899.1:n.2162A>C
ENST00000640655.2:c.1346A>C	ENSP00000491596.2:p.Lys449Thr
ENST00000651160.1:c.1643A>C	ENSP00000498829.1:p.Lys548Thr
ENST00000651541.1:c.1346A>C	ENSP00000498795.1:p.Lys449Thr
ENST00000651658.1:n.2070A>C
ENST00000651723.1:c.*1726A>C	ENSP00000498237.1:n.*1726A>C
ENST00000652016.1:c.1643A>C	ENSP00000498267.1:p.Lys548Thr
ENST00000652485.1:c.1676A>C	ENSP00000498973.1:p.Lys559Thr
ENST00000378823.7:c.1643A>C	ENSP00000368100.4:p.Lys548Thr
ENST00000423956.5:c.1635+478A>C	ENSP00000390971.1:n.1635+478A>C
ENST00000434288.1:c.138A>C
ENST00000453394.5:c.1460A>C	ENSP00000400049.1:p.Lys487Thr
ENST00000533482.5:c.*1269A>C	ENSP00000431225.1:n.*1269A>C
NM_005732.3:c.1643A>C	NP_005723.2:p.Lys548Thr
NM_005732.4:c.1643A>C MANE Select	NP_005723.2:p.Lys548Thr