Canonical Allele Identifier: CA378393572

Gene: SMC3

Linked Data

• dbSNP Id: rs1861389728
• gnomAD v3: 10-110601726-A-G
• gnomAD v4: 10-110601726-A-G
• MyVariant Identifiers: chr10:g.112361484A>G (hg19) ; chr10:g.110601726A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601726A>G , CM000672.2:g.110601726A>G	GRCh38
NC_000010.10:g.112361484A>G , CM000672.1:g.112361484A>G	GRCh37
NC_000010.9:g.112351474A>G	NCBI36
NG_012217.1:g.39036A>G , LRG_774:g.39036A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.4967A>G
ENST00000685743.1:n.2442A>G
ENST00000686057.1:n.1085A>G
ENST00000689321.1:n.1697A>G
ENST00000689986.1:n.523A>G
ENST00000361804.5:c.2734A>G MANE Select	ENSP00000354720.5:p.Met912Val
ENST00000361804.4:c.2734A>G	ENSP00000354720.4:p.Met912Val
NM_005445.3:c.2734A>G , LRG_774t1:c.2734A>G	NP_005436.1:p.Met912Val
NM_005445.4:c.2734A>G MANE Select	NP_005436.1:p.Met912Val