Canonical Allele Identifier: CA595713755

Gene: SMC3

Linked Data

• dbSNP Id: rs1480050094
• gnomAD v2: 10-112341614-A-G
• gnomAD v3: 10-110581856-A-G
• gnomAD v4: 10-110581856-A-G
• MyVariant Identifiers: chr10:g.112341614A>G (hg19) ; chr10:g.110581856A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110581856A>G , CM000672.2:g.110581856A>G	GRCh38
NC_000010.10:g.112341614A>G , CM000672.1:g.112341614A>G	GRCh37
NC_000010.9:g.112331604A>G	NCBI36
NG_012217.1:g.19166A>G , LRG_774:g.19166A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.681-67A>G
ENST00000687823.1:n.462-67A>G
ENST00000689932.1:n.2611-67A>G
ENST00000691297.1:n.681-67A>G
ENST00000691527.1:n.1351-67A>G
ENST00000692792.1:n.667-67A>G
ENST00000361804.5:c.548-67A>G MANE Select	ENSP00000354720.5:n.548-67A>G
ENST00000361804.4:c.548-67A>G	ENSP00000354720.4:n.548-67A>G
ENST00000462899.1:n.694-67A>G
NM_005445.3:c.548-67A>G , LRG_774t1:c.548-67A>G	NP_005436.1:n.548-67A>G
NM_005445.4:c.548-67A>G MANE Select	NP_005436.1:n.548-67A>G