Canonical Allele Identifier: CA127253474

Gene: RAD50

Linked Data

• dbSNP Id: rs188210640
• gnomAD v2: 5-131892640-G-T
• gnomAD v3: 5-132556948-G-T
• gnomAD v4: 5-132556948-G-T
• MyVariant Identifiers: chr5:g.131892640G>T (hg19) ; chr5:g.132556948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556948G>T , CM000667.2:g.132556948G>T	GRCh38
NC_000005.9:g.131892640G>T , CM000667.1:g.131892640G>T	GRCh37
NC_000005.8:g.131920539G>T	NCBI36
NG_021151.1:g.5025G>T
NG_021151.2:g.4972G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2336G>T	ENSP00000492349.2:n.-168-2336G>T
ENST00000638504.1:n.207-2336G>T
ENST00000638568.2:c.-169+475G>T	ENSP00000491158.2:n.-169+475G>T
ENST00000639899.1:n.290-2336G>T
ENST00000640655.2:c.-168-2336G>T	ENSP00000491596.2:n.-168-2336G>T
ENST00000651541.1:c.-230G>T	ENSP00000498795.1:n.-230G>T
ENST00000378823.7:c.-377G>T	ENSP00000368100.4:n.-377G>T
ENST00000416135.5:c.-169+475G>T	ENSP00000389515.1:n.-169+475G>T
ENST00000533482.5:c.-377G>T	ENSP00000431225.1:n.-377G>T
NM_005732.3:c.-377G>T	NP_005723.2:n.-377G>T