Canonical Allele Identifier: CA5687970

Gene: SMC3

Linked Data

• dbSNP Id: rs764891447
• ExAC: 10:112349670 A / T
• gnomAD v2: 10-112349670-A-T
• gnomAD v4: 10-110589912-A-T
• MyVariant Identifiers: chr10:g.112349670A>T (hg19) ; chr10:g.110589912A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589912A>T , CM000672.2:g.110589912A>T	GRCh38
NC_000010.10:g.112349670A>T , CM000672.1:g.112349670A>T	GRCh37
NC_000010.9:g.112339660A>T	NCBI36
NG_012217.1:g.27222A>T , LRG_774:g.27222A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1330A>T
ENST00000684988.1:n.2075A>T
ENST00000687823.1:n.1344A>T
ENST00000689932.1:n.3493A>T
ENST00000691297.1:n.1563A>T
ENST00000691527.1:n.2233A>T
ENST00000692792.1:n.1549A>T
ENST00000361804.5:c.1430A>T MANE Select	ENSP00000354720.5:p.Asn477Ile
ENST00000361804.4:c.1430A>T	ENSP00000354720.4:p.Asn477Ile
NM_005445.3:c.1430A>T , LRG_774t1:c.1430A>T	NP_005436.1:p.Asn477Ile
NM_005445.4:c.1430A>T MANE Select	NP_005436.1:p.Asn477Ile