Canonical Allele Identifier: CA595713757

Gene: SMC3

Linked Data

• dbSNP Id: rs1487990952
• gnomAD v2: 10-112341634-TA-T
• gnomAD v4: 10-110581876-TA-T
• MyVariant Identifiers: chr10:g.112341635del (hg19) ; chr10:g.110581877del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110581881del , CM000672.2:g.110581881del	GRCh38
NC_000010.10:g.112341639del , CM000672.1:g.112341639del	GRCh37
NC_000010.9:g.112331629del	NCBI36
NG_012217.1:g.19191del , LRG_774:g.19191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.681-42del
ENST00000687823.1:n.462-42del
ENST00000689932.1:n.2611-42del
ENST00000691297.1:n.681-42del
ENST00000691527.1:n.1351-42del
ENST00000692792.1:n.667-42del
ENST00000361804.5:c.548-42del MANE Select	ENSP00000354720.5:n.548-42del
ENST00000361804.4:c.548-42del	ENSP00000354720.4:n.548-42del
ENST00000462899.1:n.694-42del
NM_005445.3:c.548-42del , LRG_774t1:c.548-42del	NP_005436.1:n.548-42del
NM_005445.4:c.548-42del MANE Select	NP_005436.1:n.548-42del