Canonical Allele Identifier: CA471505879
Gene: SMC3 HGNC NCBI

Linked Data

dbSNP Id: rs1444005625
gnomAD v2: 10-112361501-T-C
gnomAD v4: 10-110601743-T-C
MyVariant Identifiers: chr10:g.112361501T>C (hg19) chr10:g.110601743T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601743T>C , CM000672.2:g.110601743T>C GRCh38
NC_000010.10:g.112361501T>C , CM000672.1:g.112361501T>C GRCh37
NC_000010.9:g.112351491T>C NCBI36
NG_012217.1:g.39053T>C , LRG_774:g.39053T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684988.1:n.4984T>C
ENST00000685743.1:n.2459T>C
ENST00000686057.1:n.1102T>C
ENST00000689321.1:n.1714T>C
ENST00000689986.1:n.540T>C
ENST00000361804.5:c.2751T>C MANE Select ENSP00000354720.5:p.His917=
ENST00000361804.4:c.2751T>C ENSP00000354720.4:p.His917=
NM_005445.3:c.2751T>C , LRG_774t1:c.2751T>C NP_005436.1:p.His917=
NM_005445.4:c.2751T>C MANE Select NP_005436.1:p.His917=
Search 100 bp 5'
Search 100 bp 3'