Canonical Allele Identifier: CA360949521

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131931329G>T (hg19) ; chr5:g.132595637G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595637G>T , CM000667.2:g.132595637G>T	GRCh38
NC_000005.9:g.131931329G>T , CM000667.1:g.131931329G>T	GRCh37
NC_000005.8:g.131959228G>T	NCBI36
NG_021151.1:g.43714G>T
NG_021151.2:g.43661G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2034G>T MANE Select	ENSP00000368100.4:p.Gln678His
ENST00000638452.2:c.1737G>T	ENSP00000492349.2:p.Gln579His
ENST00000638504.1:n.1642G>T
ENST00000638568.2:c.1737G>T	ENSP00000491158.2:p.Gln579His
ENST00000639899.1:n.2553G>T
ENST00000640655.2:c.1737G>T	ENSP00000491596.2:p.Gln579His
ENST00000651160.1:c.*178G>T	ENSP00000498829.1:n.*178G>T
ENST00000651658.1:n.2577G>T
ENST00000651723.1:c.*2117G>T	ENSP00000498237.1:n.*2117G>T
ENST00000652016.1:c.*251G>T	ENSP00000498267.1:n.*251G>T
ENST00000652485.1:c.2067G>T	ENSP00000498973.1:p.Gln689His
ENST00000378823.7:c.2034G>T	ENSP00000368100.4:p.Gln678His
ENST00000423956.5:c.*220G>T	ENSP00000390971.1:n.*220G>T
ENST00000453394.5:c.1851G>T	ENSP00000400049.1:p.Gln617His
ENST00000496204.1:n.117G>T
ENST00000533482.5:c.*1660G>T	ENSP00000431225.1:n.*1660G>T
NM_005732.3:c.2034G>T	NP_005723.2:p.Gln678His
NM_005732.4:c.2034G>T MANE Select	NP_005723.2:p.Gln678His