Canonical Allele Identifier: CA595713768

Gene: SMC3

Linked Data

• dbSNP Id: rs1206511516
• gnomAD v2: 10-112341665-C-T
• gnomAD v3: 10-110581907-C-T
• gnomAD v4: 10-110581907-C-T
• MyVariant Identifiers: chr10:g.112341665C>T (hg19) ; chr10:g.110581907C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110581907C>T , CM000672.2:g.110581907C>T	GRCh38
NC_000010.10:g.112341665C>T , CM000672.1:g.112341665C>T	GRCh37
NC_000010.9:g.112331655C>T	NCBI36
NG_012217.1:g.19217C>T , LRG_774:g.19217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.681-16C>T
ENST00000687823.1:n.462-16C>T
ENST00000689932.1:n.2611-16C>T
ENST00000691297.1:n.681-16C>T
ENST00000691527.1:n.1351-16C>T
ENST00000692792.1:n.667-16C>T
ENST00000361804.5:c.548-16C>T MANE Select	ENSP00000354720.5:n.548-16C>T
ENST00000361804.4:c.548-16C>T	ENSP00000354720.4:n.548-16C>T
ENST00000462899.1:n.694-16C>T
NM_005445.3:c.548-16C>T , LRG_774t1:c.548-16C>T	NP_005436.1:n.548-16C>T
NM_005445.4:c.548-16C>T MANE Select	NP_005436.1:n.548-16C>T