Canonical Allele Identifier: CA595711435

Gene: SMC3

Linked Data

• dbSNP Id: rs1303704789
• gnomAD v2: 10-112333453-G-T
• gnomAD v4: 10-110573695-G-T
• MyVariant Identifiers: chr10:g.112333453G>T (hg19) ; chr10:g.110573695G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573695G>T , CM000672.2:g.110573695G>T	GRCh38
NC_000010.10:g.112333453G>T , CM000672.1:g.112333453G>T	GRCh37
NC_000010.9:g.112323443G>T	NCBI36
NG_012217.1:g.11005G>T , LRG_774:g.11005G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.225-12G>T
ENST00000687823.1:n.45-1641G>T
ENST00000689932.1:n.553G>T
ENST00000691297.1:n.225-12G>T
ENST00000691527.1:n.182-12G>T
ENST00000692792.1:n.211-12G>T
ENST00000361804.5:c.92-12G>T MANE Select	ENSP00000354720.5:n.92-12G>T
ENST00000361804.4:c.92-12G>T	ENSP00000354720.4:n.92-12G>T
ENST00000462899.1:n.238-12G>T
NM_005445.3:c.92-12G>T , LRG_774t1:c.92-12G>T	NP_005436.1:n.92-12G>T
NM_005445.4:c.92-12G>T MANE Select	NP_005436.1:n.92-12G>T