Canonical Allele Identifier: CA378394422
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1697085
ClinVar RCV Id: RCV002267431
dbSNP Id: rs2134753137
MyVariant Identifiers: chr10:g.112361916A>G (hg19) chr10:g.110602158A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110602158A>G , CM000672.2:g.110602158A>G GRCh38
NC_000010.10:g.112361916A>G , CM000672.1:g.112361916A>G GRCh37
NC_000010.9:g.112351906A>G NCBI36
NG_012217.1:g.39468A>G , LRG_774:g.39468A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5318A>G
ENST00000685743.1:n.2793A>G
ENST00000686057.1:n.1436A>G
ENST00000689321.1:n.2048A>G
ENST00000689986.1:n.874A>G
ENST00000361804.5:c.3085A>G MANE Select ENSP00000354720.5:p.Ile1029Val
ENST00000361804.4:c.3085A>G ENSP00000354720.4:p.Ile1029Val
NM_005445.3:c.3085A>G , LRG_774t1:c.3085A>G NP_005436.1:p.Ile1029Val
NM_005445.4:c.3085A>G MANE Select NP_005436.1:p.Ile1029Val
Search 100 bp 5'
Search 100 bp 3'