Canonical Allele Identifier: CA399089143

Gene: RAD51D

Linked Data

• ClinVar Variation Id: 472611
• ClinVar RCV Id: RCV000542552
• dbSNP Id: rs1057521922
• gnomAD v2: 17-33434009-G-C
• gnomAD v4: 17-35106990-G-C
• MyVariant Identifiers: chr17:g.33434009G>C (hg19) ; chr17:g.35106990G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35106990G>C , CM000679.2:g.35106990G>C	GRCh38
NC_000017.10:g.33434009G>C , CM000679.1:g.33434009G>C	GRCh37
NC_000017.9:g.30458122G>C	NCBI36
NG_031858.1:g.17880C>G , LRG_516:g.17880C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000586186.3:c.345+376C>G	ENSP00000468273.3:n.345+376C>G
ENST00000587405.6:c.121C>G	ENSP00000466478.2:p.Gln41Glu
ENST00000590016.6:c.538C>G	ENSP00000466399.1:p.Gln180Glu
ENST00000590631.2:n.437-509C>G
ENST00000592577.6:c.121C>G	ENSP00000466839.2:p.Gln41Glu
ENST00000345365.11:c.478C>G MANE Select	ENSP00000338790.6:p.Gln160Glu
ENST00000335858.11:c.145-509C>G	ENSP00000338408.6:n.145-509C>G
ENST00000345365.10:c.478C>G	ENSP00000338790.6:p.Gln160Glu
ENST00000394589.8:c.478C>G	ENSP00000378090.4:p.Gln160Glu
ENST00000415064.6:n.628C>G
ENST00000460118.6:c.-54C>G	ENSP00000464356.2:n.-54C>G
ENST00000585343.5:c.560C>G
ENST00000585947.5:n.374C>G
ENST00000585982.5:n.500+376C>G
ENST00000586044.5:c.*209C>G	ENSP00000465584.1:n.*209C>G
ENST00000586186.2:c.248+376C>G
ENST00000586210.5:c.*72C>G	ENSP00000465612.1:n.*72C>G
ENST00000587405.5:c.121C>G	ENSP00000466478.1:p.Gln41Glu
ENST00000587977.5:c.*218C>G	ENSP00000466587.1:n.*218C>G
ENST00000587982.5:n.273+376C>G
ENST00000588372.5:c.121C>G	ENSP00000468764.1:p.Gln41Glu
ENST00000588594.5:c.*76+376C>G	ENSP00000465366.1:n.*76+376C>G
ENST00000590016.5:c.538C>G	ENSP00000466399.1:p.Gln180Glu
ENST00000590631.1:c.-51-509C>G	ENSP00000465033.1:n.-51-509C>G
ENST00000591723.5:c.-52+376C>G	ENSP00000467986.1:n.-52+376C>G
ENST00000592181.1:c.121C>G	ENSP00000464799.1:p.Gln41Glu
ENST00000592430.5:n.447C>G
ENST00000592577.5:c.484C>G	ENSP00000466839.1:p.Gln162Glu
ENST00000592850.5:c.346-509C>G
ENST00000592928.2:n.167-509C>G
ENST00000593039.5:c.4-509C>G	ENSP00000466834.1:n.4-509C>G
NM_001142571.1:c.538C>G	NP_001136043.1:p.Gln180Glu
NM_002878.3:c.478C>G , LRG_516t1:c.478C>G	NP_002869.3:p.Gln160Glu
NM_133629.2:c.145-509C>G	NP_598332.1:n.145-509C>G
NR_037711.1:n.615C>G
NR_037712.1:n.482+376C>G
NR_037714.1:n.233-509C>G
NM_001142571.2:c.538C>G	NP_001136043.1:p.Gln180Glu
NM_133629.3:c.145-509C>G	NP_598332.1:n.145-509C>G
NR_037711.2:n.504C>G
NR_037712.2:n.371+376C>G
NM_002878.4:c.478C>G MANE Select	NP_002869.3:p.Gln160Glu