Canonical Allele Identifier: CA595713927

Gene: SMC3

Linked Data

• dbSNP Id: rs1429170975
• gnomAD v2: 10-112341806-T-TAAGATTTTTATGTA
• MyVariant Identifiers: chr10:g.112341806_112341807insAAGATTTTTATGTA (hg19) ; chr10:g.110582048_110582049insAAGATTTTTATGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110582049_110582050insAGATTTTTATGTAA , CM000672.2:g.110582049_110582050insAGATTTTTATGTAA	GRCh38
NC_000010.10:g.112341807_112341808insAGATTTTTATGTAA , CM000672.1:g.112341807_112341808insAGATTTTTATGTAA	GRCh37
NC_000010.9:g.112331797_112331798insAGATTTTTATGTAA	NCBI36
NG_012217.1:g.19359_19360insAGATTTTTATGTAA , LRG_774:g.19359_19360insAGATTTTTATGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.807_808insAGATTTTTATGTAA
ENST00000687823.1:n.588_589insAGATTTTTATGTAA
ENST00000689932.1:n.2737_2738insAGATTTTTATGTAA
ENST00000691297.1:n.807_808insAGATTTTTATGTAA
ENST00000691527.1:n.1477_1478insAGATTTTTATGTAA
ENST00000692792.1:n.793_794insAGATTTTTATGTAA
ENST00000361804.5:c.674_675insAGATTTTTATGTAA MANE Select	ENSP00000354720.5:p.Tyr225Ter
ENST00000361804.4:c.674_675insAGATTTTTATGTAA	ENSP00000354720.4:p.Tyr225Ter
NM_005445.3:c.674_675insAGATTTTTATGTAA , LRG_774t1:c.674_675insAGATTTTTATGTAA	NP_005436.1:p.Tyr225Ter
NM_005445.4:c.674_675insAGATTTTTATGTAA MANE Select	NP_005436.1:p.Tyr225Ter