Canonical Allele Identifier: CA471371944
Gene: SMC3 HGNC NCBI

Linked Data

dbSNP Id: rs1393499335
gnomAD v2: 10-112349707-T-C
gnomAD v3: 10-110589949-T-C
gnomAD v4: 10-110589949-T-C
MyVariant Identifiers: chr10:g.112349707T>C (hg19) chr10:g.110589949T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110589949T>C , CM000672.2:g.110589949T>C GRCh38
NC_000010.10:g.112349707T>C , CM000672.1:g.112349707T>C GRCh37
NC_000010.9:g.112339697T>C NCBI36
NG_012217.1:g.27259T>C , LRG_774:g.27259T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684797.1:n.1367T>C
ENST00000684988.1:n.2112T>C
ENST00000687823.1:n.1381T>C
ENST00000689932.1:n.3530T>C
ENST00000691297.1:n.1600T>C
ENST00000691527.1:n.2270T>C
ENST00000692792.1:n.1586T>C
ENST00000361804.5:c.1467T>C MANE Select ENSP00000354720.5:p.Asp489=
ENST00000361804.4:c.1467T>C ENSP00000354720.4:p.Asp489=
NM_005445.3:c.1467T>C , LRG_774t1:c.1467T>C NP_005436.1:p.Asp489=
NM_005445.4:c.1467T>C MANE Select NP_005436.1:p.Asp489=
Search 100 bp 5'
Search 100 bp 3'