Canonical Allele Identifier: CA360935702

Gene: RAD50

Linked Data

• gnomAD v4: 5-132579902-A-C
• MyVariant Identifiers: chr5:g.131915594A>C (hg19) ; chr5:g.132579902A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579902A>C , CM000667.2:g.132579902A>C	GRCh38
NC_000005.9:g.131915594A>C , CM000667.1:g.131915594A>C	GRCh37
NC_000005.8:g.131943493A>C	NCBI36
NG_021151.1:g.27979A>C
NG_021151.2:g.27926A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.592A>C MANE Select	ENSP00000368100.4:p.Thr198Pro
ENST00000638452.2:c.295A>C	ENSP00000492349.2:p.Thr99Pro
ENST00000638504.1:n.442+3974A>C
ENST00000638568.2:c.295A>C	ENSP00000491158.2:p.Thr99Pro
ENST00000639899.1:n.1111A>C
ENST00000640655.2:c.295A>C	ENSP00000491596.2:p.Thr99Pro
ENST00000651160.1:c.592A>C	ENSP00000498829.1:p.Thr198Pro
ENST00000651541.1:c.295A>C	ENSP00000498795.1:p.Thr99Pro
ENST00000651658.1:n.1019A>C
ENST00000651723.1:c.*675A>C	ENSP00000498237.1:n.*675A>C
ENST00000652016.1:c.592A>C	ENSP00000498267.1:p.Thr198Pro
ENST00000652485.1:c.592A>C	ENSP00000498973.1:p.Thr198Pro
ENST00000378823.7:c.592A>C	ENSP00000368100.4:p.Thr198Pro
ENST00000416135.5:c.295A>C	ENSP00000389515.1:p.Thr99Pro
ENST00000423956.5:c.592A>C	ENSP00000390971.1:p.Thr198Pro
ENST00000453394.5:c.592A>C	ENSP00000400049.1:p.Thr198Pro
ENST00000487596.1:n.158A>C
ENST00000533482.5:c.*218A>C	ENSP00000431225.1:n.*218A>C
NM_005732.3:c.592A>C	NP_005723.2:p.Thr198Pro
NM_005732.4:c.592A>C MANE Select	NP_005723.2:p.Thr198Pro