Canonical Allele Identifier: CA378377305

Gene: SMC3

Linked Data

• dbSNP Id: rs1861038992
• gnomAD v3: 10-110582061-A-G
• gnomAD v4: 10-110582061-A-G
• MyVariant Identifiers: chr10:g.112341819A>G (hg19) ; chr10:g.110582061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110582061A>G , CM000672.2:g.110582061A>G	GRCh38
NC_000010.10:g.112341819A>G , CM000672.1:g.112341819A>G	GRCh37
NC_000010.9:g.112331809A>G	NCBI36
NG_012217.1:g.19371A>G , LRG_774:g.19371A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.819A>G
ENST00000687823.1:n.600A>G
ENST00000689932.1:n.2749A>G
ENST00000691297.1:n.819A>G
ENST00000691527.1:n.1489A>G
ENST00000692792.1:n.805A>G
ENST00000361804.5:c.686A>G MANE Select	ENSP00000354720.5:p.Asn229Ser
ENST00000361804.4:c.686A>G	ENSP00000354720.4:p.Asn229Ser
NM_005445.3:c.686A>G , LRG_774t1:c.686A>G	NP_005436.1:p.Asn229Ser
NM_005445.4:c.686A>G MANE Select	NP_005436.1:p.Asn229Ser