Canonical Allele Identifier: CA5688281

Gene: SMC3

Linked Data

• dbSNP Id: rs778619317
• ExAC: 10:112361480 A / C
• gnomAD v2: 10-112361480-A-C
• MyVariant Identifiers: chr10:g.112361480A>C (hg19) ; chr10:g.110601722A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601722A>C , CM000672.2:g.110601722A>C	GRCh38
NC_000010.10:g.112361480A>C , CM000672.1:g.112361480A>C	GRCh37
NC_000010.9:g.112351470A>C	NCBI36
NG_012217.1:g.39032A>C , LRG_774:g.39032A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.4963A>C
ENST00000685743.1:n.2438A>C
ENST00000686057.1:n.1081A>C
ENST00000689321.1:n.1693A>C
ENST00000689986.1:n.519A>C
ENST00000361804.5:c.2730A>C MANE Select	ENSP00000354720.5:p.Glu910Asp
ENST00000361804.4:c.2730A>C	ENSP00000354720.4:p.Glu910Asp
NM_005445.3:c.2730A>C , LRG_774t1:c.2730A>C	NP_005436.1:p.Glu910Asp
NM_005445.4:c.2730A>C MANE Select	NP_005436.1:p.Glu910Asp