Canonical Allele Identifier: CA471370726
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1336098
ClinVar RCV Id: RCV001822280 RCV002361072 RCV002542504
dbSNP Id: rs1412736656
gnomAD v2: 10-112341754-G-A
gnomAD v3: 10-110581996-G-A
gnomAD v4: 10-110581996-G-A
MyVariant Identifiers: chr10:g.112341754G>A (hg19) chr10:g.110581996G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110581996G>A , CM000672.2:g.110581996G>A GRCh38
NC_000010.10:g.112341754G>A , CM000672.1:g.112341754G>A GRCh37
NC_000010.9:g.112331744G>A NCBI36
NG_012217.1:g.19306G>A , LRG_774:g.19306G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.754G>A
ENST00000687823.1:n.535G>A
ENST00000689932.1:n.2684G>A
ENST00000691297.1:n.754G>A
ENST00000691527.1:n.1424G>A
ENST00000692792.1:n.740G>A
ENST00000361804.5:c.621G>A MANE Select ENSP00000354720.5:p.Lys207=
ENST00000361804.4:c.621G>A ENSP00000354720.4:p.Lys207=
ENST00000462899.1:n.767G>A
NM_005445.3:c.621G>A , LRG_774t1:c.621G>A NP_005436.1:p.Lys207=
NM_005445.4:c.621G>A MANE Select NP_005436.1:p.Lys207=
Search 100 bp 5'
Search 100 bp 3'