Canonical Allele Identifier: CA5688304

Gene: SMC3

Linked Data

• dbSNP Id: rs781449779
• ExAC: 10:112361696 T / G
• gnomAD v2: 10-112361696-T-G
• gnomAD v4: 10-110601938-T-G
• MyVariant Identifiers: chr10:g.112361696T>G (hg19) ; chr10:g.110601938T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601938T>G , CM000672.2:g.110601938T>G	GRCh38
NC_000010.10:g.112361696T>G , CM000672.1:g.112361696T>G	GRCh37
NC_000010.9:g.112351686T>G	NCBI36
NG_012217.1:g.39248T>G , LRG_774:g.39248T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5126-28T>G
ENST00000685743.1:n.2601-28T>G
ENST00000686057.1:n.1244-28T>G
ENST00000689321.1:n.1856-28T>G
ENST00000689986.1:n.682-28T>G
ENST00000361804.5:c.2893-28T>G MANE Select	ENSP00000354720.5:n.2893-28T>G
ENST00000361804.4:c.2893-28T>G	ENSP00000354720.4:n.2893-28T>G
NM_005445.3:c.2893-28T>G , LRG_774t1:c.2893-28T>G	NP_005436.1:n.2893-28T>G
NM_005445.4:c.2893-28T>G MANE Select	NP_005436.1:n.2893-28T>G