Canonical Allele Identifier: CA5688336
Gene: SMC3 HGNC NCBI

Linked Data

dbSNP Id: rs184670690
ExAC: 10:112361952 T / C
gnomAD v2: 10-112361952-T-C
gnomAD v3: 10-110602194-T-C
gnomAD v4: 10-110602194-T-C
MyVariant Identifiers: chr10:g.112361952T>C (hg19) chr10:g.110602194T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110602194T>C , CM000672.2:g.110602194T>C GRCh38
NC_000010.10:g.112361952T>C , CM000672.1:g.112361952T>C GRCh37
NC_000010.9:g.112351942T>C NCBI36
NG_012217.1:g.39504T>C , LRG_774:g.39504T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5338+16T>C
ENST00000685743.1:n.2813+16T>C
ENST00000686057.1:n.1456+16T>C
ENST00000689321.1:n.2068+16T>C
ENST00000689986.1:n.894+16T>C
ENST00000361804.5:c.3105+16T>C MANE Select ENSP00000354720.5:n.3105+16T>C
ENST00000361804.4:c.3105+16T>C ENSP00000354720.4:n.3105+16T>C
NM_005445.3:c.3105+16T>C , LRG_774t1:c.3105+16T>C NP_005436.1:n.3105+16T>C
NM_005445.4:c.3105+16T>C MANE Select NP_005436.1:n.3105+16T>C
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