Canonical Allele Identifier: CA213229019
Gene: SMC3 HGNC NCBI

Linked Data

dbSNP Id: rs907331258
gnomAD v4: 10-110578811-G-A
MyVariant Identifiers: chr10:g.112338569G>A (hg19) chr10:g.110578811G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110578811G>A , CM000672.2:g.110578811G>A GRCh38
NC_000010.10:g.112338569G>A , CM000672.1:g.112338569G>A GRCh37
NC_000010.9:g.112328559G>A NCBI36
NG_012217.1:g.16121G>A , LRG_774:g.16121G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.562+105G>A
ENST00000687823.1:n.343+105G>A
ENST00000689932.1:n.2492+105G>A
ENST00000691297.1:n.562+105G>A
ENST00000691527.1:n.1232+105G>A
ENST00000692792.1:n.548+105G>A
ENST00000361804.5:c.429+105G>A MANE Select ENSP00000354720.5:n.429+105G>A
ENST00000361804.4:c.429+105G>A ENSP00000354720.4:n.429+105G>A
ENST00000462899.1:n.575+105G>A
NM_005445.3:c.429+105G>A , LRG_774t1:c.429+105G>A NP_005436.1:n.429+105G>A
NM_005445.4:c.429+105G>A MANE Select NP_005436.1:n.429+105G>A
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