Canonical Allele Identifier: CA5688335
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2199037
ClinVar RCV Id: RCV002634070
dbSNP Id: rs780451781
ExAC: 10:112361951 G / A
gnomAD v2: 10-112361951-G-A
gnomAD v3: 10-110602193-G-A
gnomAD v4: 10-110602193-G-A
MyVariant Identifiers: chr10:g.112361951G>A (hg19) chr10:g.110602193G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110602193G>A , CM000672.2:g.110602193G>A GRCh38
NC_000010.10:g.112361951G>A , CM000672.1:g.112361951G>A GRCh37
NC_000010.9:g.112351941G>A NCBI36
NG_012217.1:g.39503G>A , LRG_774:g.39503G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5338+15G>A
ENST00000685743.1:n.2813+15G>A
ENST00000686057.1:n.1456+15G>A
ENST00000689321.1:n.2068+15G>A
ENST00000689986.1:n.894+15G>A
ENST00000361804.5:c.3105+15G>A MANE Select ENSP00000354720.5:n.3105+15G>A
ENST00000361804.4:c.3105+15G>A ENSP00000354720.4:n.3105+15G>A
NM_005445.3:c.3105+15G>A , LRG_774t1:c.3105+15G>A NP_005436.1:n.3105+15G>A
NM_005445.4:c.3105+15G>A MANE Select NP_005436.1:n.3105+15G>A
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