Canonical Allele Identifier: CA360959425

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131944823A>T (hg19) ; chr5:g.132609131A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609131A>T , CM000667.2:g.132609131A>T	GRCh38
NC_000005.9:g.131944823A>T , CM000667.1:g.131944823A>T	GRCh37
NC_000005.8:g.131972722A>T	NCBI36
NG_021151.1:g.57208A>T
NG_021151.2:g.57155A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2844A>T MANE Select	ENSP00000368100.4:p.Lys948Asn
ENST00000638452.2:c.2547A>T	ENSP00000492349.2:p.Lys849Asn
ENST00000638504.1:n.2452A>T
ENST00000638568.2:c.2547A>T	ENSP00000491158.2:p.Lys849Asn
ENST00000639899.1:n.3363A>T
ENST00000640655.2:c.2547A>T	ENSP00000491596.2:p.Lys849Asn
ENST00000651160.1:c.*988A>T	ENSP00000498829.1:n.*988A>T
ENST00000651723.1:c.*2927A>T	ENSP00000498237.1:n.*2927A>T
ENST00000378823.7:c.2844A>T	ENSP00000368100.4:p.Lys948Asn
ENST00000423956.5:c.*1030A>T	ENSP00000390971.1:n.*1030A>T
ENST00000533482.5:c.*2470A>T	ENSP00000431225.1:n.*2470A>T
NM_005732.3:c.2844A>T	NP_005723.2:p.Lys948Asn
NM_005732.4:c.2844A>T MANE Select	NP_005723.2:p.Lys948Asn