Canonical Allele Identifier: CA213249587

Gene: SMC3

Linked Data

• dbSNP Id: rs762809090
• gnomAD v3: 10-110602205-T-TAC
• gnomAD v4: 10-110602205-T-TAC
• MyVariant Identifiers: chr10:g.112361963_112361964insAC (hg19) ; chr10:g.110602205_110602206insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602211_110602212dup , CM000672.2:g.110602211_110602212dup	GRCh38
NC_000010.10:g.112361969_112361970dup , CM000672.1:g.112361969_112361970dup	GRCh37
NC_000010.9:g.112351959_112351960dup	NCBI36
NG_012217.1:g.39521_39522dup , LRG_774:g.39521_39522dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5338+33_5338+34dup
ENST00000685743.1:n.2813+33_2813+34dup
ENST00000686057.1:n.1456+33_1456+34dup
ENST00000689321.1:n.2068+33_2068+34dup
ENST00000689986.1:n.894+33_894+34dup
ENST00000361804.5:c.3105+33_3105+34dup MANE Select	ENSP00000354720.5:n.3105+33_3105+34dup
ENST00000361804.4:c.3105+33_3105+34dup	ENSP00000354720.4:n.3105+33_3105+34dup
NM_005445.3:c.3105+33_3105+34dup , LRG_774t1:c.3105+33_3105+34dup	NP_005436.1:n.3105+33_3105+34dup
NM_005445.4:c.3105+33_3105+34dup MANE Select	NP_005436.1:n.3105+33_3105+34dup