Canonical Allele Identifier: CA5687729

Gene: SMC3

Linked Data

• ClinVar Variation Id: 2716866
• ClinVar RCV Id: RCV003503897
• dbSNP Id: rs748876063
• ExAC: 10:112338416 C / T
• gnomAD v2: 10-112338416-C-T
• gnomAD v3: 10-110578658-C-T
• gnomAD v4: 10-110578658-C-T
• MyVariant Identifiers: chr10:g.112338416C>T (hg19) ; chr10:g.110578658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578658C>T , CM000672.2:g.110578658C>T	GRCh38
NC_000010.10:g.112338416C>T , CM000672.1:g.112338416C>T	GRCh37
NC_000010.9:g.112328406C>T	NCBI36
NG_012217.1:g.15968C>T , LRG_774:g.15968C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.514C>T
ENST00000687823.1:n.295C>T
ENST00000689932.1:n.2444C>T
ENST00000691297.1:n.514C>T
ENST00000691527.1:n.1184C>T
ENST00000692792.1:n.500C>T
ENST00000361804.5:c.381C>T MANE Select	ENSP00000354720.5:p.Ser127=
ENST00000361804.4:c.381C>T	ENSP00000354720.4:p.Ser127=
ENST00000462899.1:n.527C>T
NM_005445.3:c.381C>T , LRG_774t1:c.381C>T	NP_005436.1:p.Ser127=
NM_005445.4:c.381C>T MANE Select	NP_005436.1:p.Ser127=