Canonical Allele Identifier: CA595711874

Gene: SMC3

Linked Data

• dbSNP Id: rs1291124126
• gnomAD v2: 10-112335197-C-T
• gnomAD v4: 10-110575439-C-T
• MyVariant Identifiers: chr10:g.112335197C>T (hg19) ; chr10:g.110575439C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110575439C>T , CM000672.2:g.110575439C>T	GRCh38
NC_000010.10:g.112335197C>T , CM000672.1:g.112335197C>T	GRCh37
NC_000010.9:g.112325187C>T	NCBI36
NG_012217.1:g.12749C>T , LRG_774:g.12749C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.331+36C>T
ENST00000687823.1:n.112+36C>T
ENST00000689932.1:n.2261+36C>T
ENST00000691297.1:n.331+36C>T
ENST00000691527.1:n.288+36C>T
ENST00000692792.1:n.317+36C>T
ENST00000361804.5:c.198+36C>T MANE Select	ENSP00000354720.5:n.198+36C>T
ENST00000361804.4:c.198+36C>T	ENSP00000354720.4:n.198+36C>T
ENST00000462899.1:n.344+36C>T
NM_005445.3:c.198+36C>T , LRG_774t1:c.198+36C>T	NP_005436.1:n.198+36C>T
NM_005445.4:c.198+36C>T MANE Select	NP_005436.1:n.198+36C>T