Canonical Allele Identifier: CA360947426

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131930575C>T (hg19) ; chr5:g.132594883C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594883C>T , CM000667.2:g.132594883C>T	GRCh38
NC_000005.9:g.131930575C>T , CM000667.1:g.131930575C>T	GRCh37
NC_000005.8:g.131958474C>T	NCBI36
NG_021151.1:g.42960C>T
NG_021151.2:g.42907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1808C>T MANE Select	ENSP00000368100.4:p.Ser603Leu
ENST00000638452.2:c.1511C>T	ENSP00000492349.2:p.Ser504Leu
ENST00000638504.1:n.1480-221C>T
ENST00000638568.2:c.1511C>T	ENSP00000491158.2:p.Ser504Leu
ENST00000639899.1:n.2327C>T
ENST00000640655.2:c.1511C>T	ENSP00000491596.2:p.Ser504Leu
ENST00000651160.1:c.*16-221C>T	ENSP00000498829.1:n.*16-221C>T
ENST00000651658.1:n.2351C>T
ENST00000651723.1:c.*1891C>T	ENSP00000498237.1:n.*1891C>T
ENST00000652016.1:c.*88+206C>T	ENSP00000498267.1:n.*88+206C>T
ENST00000652485.1:c.1841C>T	ENSP00000498973.1:p.Ser614Leu
ENST00000378823.7:c.1808C>T	ENSP00000368100.4:p.Ser603Leu
ENST00000423956.5:c.1650C>T	ENSP00000390971.1:p.Phe550=
ENST00000453394.5:c.1625C>T	ENSP00000400049.1:p.Ser542Leu
ENST00000533482.5:c.*1434C>T	ENSP00000431225.1:n.*1434C>T
NM_005732.3:c.1808C>T	NP_005723.2:p.Ser603Leu
NM_005732.4:c.1808C>T MANE Select	NP_005723.2:p.Ser603Leu