Canonical Allele Identifier: CA5688326
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2905111
ClinVar RCV Id: RCV003612166
dbSNP Id: rs748366020
ExAC: 10:112361903 G / T
gnomAD v2: 10-112361903-G-T
gnomAD v3: 10-110602145-G-T
gnomAD v4: 10-110602145-G-T
MyVariant Identifiers: chr10:g.112361903G>T (hg19) chr10:g.110602145G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110602145G>T , CM000672.2:g.110602145G>T GRCh38
NC_000010.10:g.112361903G>T , CM000672.1:g.112361903G>T GRCh37
NC_000010.9:g.112351893G>T NCBI36
NG_012217.1:g.39455G>T , LRG_774:g.39455G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5305G>T
ENST00000685743.1:n.2780G>T
ENST00000686057.1:n.1423G>T
ENST00000689321.1:n.2035G>T
ENST00000689986.1:n.861G>T
ENST00000361804.5:c.3072G>T MANE Select ENSP00000354720.5:p.Arg1024=
ENST00000361804.4:c.3072G>T ENSP00000354720.4:p.Arg1024=
NM_005445.3:c.3072G>T , LRG_774t1:c.3072G>T NP_005436.1:p.Arg1024=
NM_005445.4:c.3072G>T MANE Select NP_005436.1:p.Arg1024=
Search 100 bp 5'
Search 100 bp 3'