Canonical Allele Identifier: CA360949348

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131931304T>G (hg19) ; chr5:g.132595612T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595612T>G , CM000667.2:g.132595612T>G	GRCh38
NC_000005.9:g.131931304T>G , CM000667.1:g.131931304T>G	GRCh37
NC_000005.8:g.131959203T>G	NCBI36
NG_021151.1:g.43689T>G
NG_021151.2:g.43636T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2009T>G MANE Select	ENSP00000368100.4:p.Ile670Ser
ENST00000638452.2:c.1712T>G	ENSP00000492349.2:p.Ile571Ser
ENST00000638504.1:n.1617T>G
ENST00000638568.2:c.1712T>G	ENSP00000491158.2:p.Ile571Ser
ENST00000639899.1:n.2528T>G
ENST00000640655.2:c.1712T>G	ENSP00000491596.2:p.Ile571Ser
ENST00000651160.1:c.*153T>G	ENSP00000498829.1:n.*153T>G
ENST00000651658.1:n.2552T>G
ENST00000651723.1:c.*2092T>G	ENSP00000498237.1:n.*2092T>G
ENST00000652016.1:c.*226T>G	ENSP00000498267.1:n.*226T>G
ENST00000652485.1:c.2042T>G	ENSP00000498973.1:p.Ile681Ser
ENST00000378823.7:c.2009T>G	ENSP00000368100.4:p.Ile670Ser
ENST00000423956.5:c.*195T>G	ENSP00000390971.1:n.*195T>G
ENST00000453394.5:c.1826T>G	ENSP00000400049.1:p.Ile609Ser
ENST00000496204.1:n.92T>G
ENST00000533482.5:c.*1635T>G	ENSP00000431225.1:n.*1635T>G
NM_005732.3:c.2009T>G	NP_005723.2:p.Ile670Ser
NM_005732.4:c.2009T>G MANE Select	NP_005723.2:p.Ile670Ser