Canonical Allele Identifier: CA360964871

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131953921G>C (hg19) ; chr5:g.132618229G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618229G>C , CM000667.2:g.132618229G>C	GRCh38
NC_000005.9:g.131953921G>C , CM000667.1:g.131953921G>C	GRCh37
NC_000005.8:g.131981820G>C	NCBI36
NG_021151.1:g.66306G>C
NG_021151.2:g.66253G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3324G>C MANE Select	ENSP00000368100.4:p.Met1108Ile
ENST00000638452.2:c.3027G>C	ENSP00000492349.2:p.Met1009Ile
ENST00000638504.1:n.2932G>C
ENST00000638568.2:c.3027G>C	ENSP00000491158.2:p.Met1009Ile
ENST00000639899.1:n.3843G>C
ENST00000640655.2:c.3027G>C	ENSP00000491596.2:p.Met1009Ile
ENST00000651249.1:c.160G>C
ENST00000378823.7:c.3324G>C	ENSP00000368100.4:p.Met1108Ile
ENST00000533482.5:c.*2950G>C	ENSP00000431225.1:n.*2950G>C
NM_005732.3:c.3324G>C	NP_005723.2:p.Met1108Ile
NM_005732.4:c.3324G>C MANE Select	NP_005723.2:p.Met1108Ile