Canonical Allele Identifier: CA378393875
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1312209
ClinVar RCV Id: RCV001752862
dbSNP Id: rs2134752736
MyVariant Identifiers: chr10:g.112361611T>C (hg19) chr10:g.110601853T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601853T>C , CM000672.2:g.110601853T>C GRCh38
NC_000010.10:g.112361611T>C , CM000672.1:g.112361611T>C GRCh37
NC_000010.9:g.112351601T>C NCBI36
NG_012217.1:g.39163T>C , LRG_774:g.39163T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5094T>C
ENST00000685743.1:n.2569T>C
ENST00000686057.1:n.1212T>C
ENST00000689321.1:n.1824T>C
ENST00000689986.1:n.650T>C
ENST00000361804.5:c.2861T>C MANE Select ENSP00000354720.5:p.Phe954Ser
ENST00000361804.4:c.2861T>C ENSP00000354720.4:p.Phe954Ser
NM_005445.3:c.2861T>C , LRG_774t1:c.2861T>C NP_005436.1:p.Phe954Ser
NM_005445.4:c.2861T>C MANE Select NP_005436.1:p.Phe954Ser
Search 100 bp 5'
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