Canonical Allele Identifier: CA5687675

Gene: SMC3

Linked Data

• dbSNP Id: rs754582099
• ExAC: 10:112337301 G / GA
• gnomAD v4: 10-110577543-G-GA
• MyVariant Identifiers: chr10:g.112337301_112337302insA (hg19) ; chr10:g.110577543_110577544insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577544dup , CM000672.2:g.110577544dup	GRCh38
NC_000010.10:g.112337302dup , CM000672.1:g.112337302dup	GRCh37
NC_000010.9:g.112327292dup	NCBI36
NG_012217.1:g.14854dup , LRG_774:g.14854dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.403+52dup
ENST00000687823.1:n.184+52dup
ENST00000689932.1:n.2333+52dup
ENST00000691297.1:n.403+52dup
ENST00000691527.1:n.360+52dup
ENST00000692792.1:n.389+52dup
ENST00000361804.5:c.270+52dup MANE Select	ENSP00000354720.5:n.270+52dup
ENST00000361804.4:c.270+52dup	ENSP00000354720.4:n.270+52dup
ENST00000462899.1:n.416+52dup
NM_005445.3:c.270+52dup , LRG_774t1:c.270+52dup	NP_005436.1:n.270+52dup
NM_005445.4:c.270+52dup MANE Select	NP_005436.1:n.270+52dup