Canonical Allele Identifier: CA2675216502

Gene: RAD50

Linked Data

• gnomAD v4: 5-132579844-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579844T>C , CM000667.2:g.132579844T>C	GRCh38
NC_000005.9:g.131915536T>C , CM000667.1:g.131915536T>C	GRCh37
NC_000005.8:g.131943435T>C	NCBI36
NG_021151.1:g.27921T>C
NG_021151.2:g.27868T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.552-18T>C MANE Select	ENSP00000368100.4:n.552-18T>C
ENST00000638452.2:c.255-18T>C	ENSP00000492349.2:n.255-18T>C
ENST00000638504.1:n.442+3916T>C
ENST00000638568.2:c.255-18T>C	ENSP00000491158.2:n.255-18T>C
ENST00000639899.1:n.1053T>C
ENST00000640655.2:c.255-18T>C	ENSP00000491596.2:n.255-18T>C
ENST00000651160.1:c.552-18T>C	ENSP00000498829.1:n.552-18T>C
ENST00000651541.1:c.255-18T>C	ENSP00000498795.1:n.255-18T>C
ENST00000651658.1:n.961T>C
ENST00000651723.1:c.*635-18T>C	ENSP00000498237.1:n.*635-18T>C
ENST00000652016.1:c.552-18T>C	ENSP00000498267.1:n.552-18T>C
ENST00000652485.1:c.552-18T>C	ENSP00000498973.1:n.552-18T>C
ENST00000378823.7:c.552-18T>C	ENSP00000368100.4:n.552-18T>C
ENST00000416135.5:c.255-18T>C	ENSP00000389515.1:n.255-18T>C
ENST00000423956.5:c.552-18T>C	ENSP00000390971.1:n.552-18T>C
ENST00000453394.5:c.552-18T>C	ENSP00000400049.1:n.552-18T>C
ENST00000487596.1:n.100T>C
ENST00000533482.5:c.*178-18T>C	ENSP00000431225.1:n.*178-18T>C
NM_005732.3:c.552-18T>C	NP_005723.2:n.552-18T>C
NM_005732.4:c.552-18T>C MANE Select	NP_005723.2:n.552-18T>C