Canonical Allele Identifier: CA5687626

Gene: SMC3

Linked Data

• dbSNP Id: rs764130918
• ExAC: 10:112333464 GT / G
• gnomAD v2: 10-112333464-GT-G
• MyVariant Identifiers: chr10:g.112333465del (hg19) ; chr10:g.110573707del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573707del , CM000672.2:g.110573707del	GRCh38
NC_000010.10:g.112333465del , CM000672.1:g.112333465del	GRCh37
NC_000010.9:g.112323455del	NCBI36
NG_012217.1:g.11017del , LRG_774:g.11017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.225del
ENST00000687823.1:n.45-1629del
ENST00000689932.1:n.565del
ENST00000691297.1:n.225del
ENST00000691527.1:n.182del
ENST00000692792.1:n.211del
ENST00000361804.5:c.92del MANE Select	ENSP00000354720.5:p.Val31GlyfsTer?
ENST00000361804.4:c.92del	ENSP00000354720.4:p.Val31GlyfsTer?
ENST00000462899.1:n.238del
NM_005445.3:c.92del , LRG_774t1:c.92del	NP_005436.1:p.Val31GlyfsTer?
NM_005445.4:c.92del MANE Select	NP_005436.1:p.Val31GlyfsTer?