Canonical Allele Identifier: CA360956712

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940618A>T (hg19) ; chr5:g.132604926A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604926A>T , CM000667.2:g.132604926A>T	GRCh38
NC_000005.9:g.131940618A>T , CM000667.1:g.131940618A>T	GRCh37
NC_000005.8:g.131968517A>T	NCBI36
NG_021151.1:g.53003A>T
NG_021151.2:g.52950A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2645A>T MANE Select	ENSP00000368100.4:p.Gln882Leu
ENST00000638452.2:c.2348A>T	ENSP00000492349.2:p.Gln783Leu
ENST00000638504.1:n.2253A>T
ENST00000638568.2:c.2348A>T	ENSP00000491158.2:p.Gln783Leu
ENST00000639899.1:n.3164A>T
ENST00000640655.2:c.2348A>T	ENSP00000491596.2:p.Gln783Leu
ENST00000651160.1:c.*789A>T	ENSP00000498829.1:n.*789A>T
ENST00000651723.1:c.*2728A>T	ENSP00000498237.1:n.*2728A>T
ENST00000652016.1:c.*862A>T	ENSP00000498267.1:n.*862A>T
ENST00000652485.1:c.2678A>T	ENSP00000498973.1:p.Gln893Leu
ENST00000378823.7:c.2645A>T	ENSP00000368100.4:p.Gln882Leu
ENST00000423956.5:c.*831A>T	ENSP00000390971.1:n.*831A>T
ENST00000533482.5:c.*2271A>T	ENSP00000431225.1:n.*2271A>T
NM_005732.3:c.2645A>T	NP_005723.2:p.Gln882Leu
NM_005732.4:c.2645A>T MANE Select	NP_005723.2:p.Gln882Leu