Canonical Allele Identifier: CA203074

Gene: SMC3

Linked Data

• ClinVar Variation Id: 159980
• ClinVar RCV Id: RCV000147590 ; RCV000178906 ; RCV001533530 ; RCV002312664
• dbSNP Id: rs146433240
• ExAC: 10:112337235 A / G
• gnomAD v2: 10-112337235-A-G
• gnomAD v3: 10-110577477-A-G
• gnomAD v4: 10-110577477-A-G
• MyVariant Identifiers: chr10:g.112337235A>G (hg19) ; chr10:g.110577477A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577477A>G , CM000672.2:g.110577477A>G	GRCh38
NC_000010.10:g.112337235A>G , CM000672.1:g.112337235A>G	GRCh37
NC_000010.9:g.112327225A>G	NCBI36
NG_012217.1:g.14787A>G , LRG_774:g.14787A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.388A>G
ENST00000687823.1:n.169A>G
ENST00000689932.1:n.2318A>G
ENST00000691297.1:n.388A>G
ENST00000691527.1:n.345A>G
ENST00000692792.1:n.374A>G
ENST00000361804.5:c.255A>G MANE Select	ENSP00000354720.5:p.Ser85=
ENST00000361804.4:c.255A>G	ENSP00000354720.4:p.Ser85=
ENST00000462899.1:n.401A>G
NM_005445.3:c.255A>G , LRG_774t1:c.255A>G	NP_005436.1:p.Ser85=
NM_005445.4:c.255A>G MANE Select	NP_005436.1:p.Ser85=