Canonical Allele Identifier: CA5688339

Gene: SMC3

Linked Data

• dbSNP Id: rs769771594
• ExAC: 10:112361961 CAT / C
• gnomAD v2: 10-112361961-CAT-C
• gnomAD v3: 10-110602203-CAT-C
• gnomAD v4: 10-110602203-CAT-C
• MyVariant Identifiers: chr10:g.112361962_112361963del (hg19) ; chr10:g.110602204_110602205del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602205_110602206del , CM000672.2:g.110602205_110602206del	GRCh38
NC_000010.10:g.112361963_112361964del , CM000672.1:g.112361963_112361964del	GRCh37
NC_000010.9:g.112351953_112351954del	NCBI36
NG_012217.1:g.39515_39516del , LRG_774:g.39515_39516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5338+27_5338+28del
ENST00000685743.1:n.2813+27_2813+28del
ENST00000686057.1:n.1456+27_1456+28del
ENST00000689321.1:n.2068+27_2068+28del
ENST00000689986.1:n.894+27_894+28del
ENST00000361804.5:c.3105+27_3105+28del MANE Select	ENSP00000354720.5:n.3105+27_3105+28del
ENST00000361804.4:c.3105+27_3105+28del	ENSP00000354720.4:n.3105+27_3105+28del
NM_005445.3:c.3105+27_3105+28del , LRG_774t1:c.3105+27_3105+28del	NP_005436.1:n.3105+27_3105+28del
NM_005445.4:c.3105+27_3105+28del MANE Select	NP_005436.1:n.3105+27_3105+28del