Canonical Allele Identifier: CA399088509

Gene: RAD51D

Linked Data

• ClinVar Variation Id: 989429
• ClinVar RCV Id: RCV002348857 ; RCV002463462
• dbSNP Id: rs2091602962
• MyVariant Identifiers: chr17:g.33433407G>A (hg19) ; chr17:g.35106388G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35106388G>A , CM000679.2:g.35106388G>A	GRCh38
NC_000017.10:g.33433407G>A , CM000679.1:g.33433407G>A	GRCh37
NC_000017.9:g.30457520G>A	NCBI36
NG_031858.1:g.18482C>T , LRG_516:g.18482C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000586186.3:c.439C>T	ENSP00000468273.3:p.Gln147Ter
ENST00000587405.6:c.217C>T	ENSP00000466478.2:p.Gln73Ter
ENST00000590016.6:c.634C>T	ENSP00000466399.1:p.Gln212Ter
ENST00000590631.2:n.530C>T
ENST00000592577.6:c.217C>T	ENSP00000466839.2:p.Gln73Ter
ENST00000345365.11:c.574C>T MANE Select	ENSP00000338790.6:p.Gln192Ter
ENST00000335858.11:c.238C>T	ENSP00000338408.6:p.Gln80Ter
ENST00000345365.10:c.574C>T	ENSP00000338790.6:p.Gln192Ter
ENST00000394589.8:c.574C>T	ENSP00000378090.4:p.Gln192Ter
ENST00000415064.6:n.724C>T
ENST00000460118.6:c.43C>T	ENSP00000464356.2:p.Gln15Ter
ENST00000585947.5:n.470C>T
ENST00000585982.5:n.594C>T
ENST00000586044.5:c.*305C>T	ENSP00000465584.1:n.*305C>T
ENST00000586210.5:c.*168C>T	ENSP00000465612.1:n.*168C>T
ENST00000587405.5:c.217C>T	ENSP00000466478.1:p.Gln73Ter
ENST00000587977.5:c.*314C>T	ENSP00000466587.1:n.*314C>T
ENST00000587982.5:n.367C>T
ENST00000588372.5:c.217C>T	ENSP00000468764.1:p.Gln73Ter
ENST00000588594.5:c.*170C>T	ENSP00000465366.1:n.*170C>T
ENST00000590016.5:c.634C>T	ENSP00000466399.1:p.Gln212Ter
ENST00000590631.1:c.43C>T	ENSP00000465033.1:p.Gln15Ter
ENST00000591723.5:c.43C>T	ENSP00000467986.1:p.Gln15Ter
ENST00000592181.1:c.217C>T	ENSP00000464799.1:p.Gln73Ter
ENST00000592430.5:n.543C>T
ENST00000592577.5:c.580C>T	ENSP00000466839.1:p.Gln194Ter
ENST00000593039.5:c.97C>T	ENSP00000466834.1:p.Gln33Ter
NM_001142571.1:c.634C>T	NP_001136043.1:p.Gln212Ter
NM_002878.3:c.574C>T , LRG_516t1:c.574C>T	NP_002869.3:p.Gln192Ter
NM_133629.2:c.238C>T	NP_598332.1:p.Gln80Ter
NR_037711.1:n.711C>T
NR_037712.1:n.576C>T
NR_037714.1:n.326C>T
NM_001142571.2:c.634C>T	NP_001136043.1:p.Gln212Ter
NM_133629.3:c.238C>T	NP_598332.1:p.Gln80Ter
NR_037711.2:n.600C>T
NR_037712.2:n.465C>T
NM_002878.4:c.574C>T MANE Select	NP_002869.3:p.Gln192Ter