Canonical Allele Identifier: CA2589098960
Gene: SMC3 HGNC NCBI

Linked Data

gnomAD v3: 10-110573771-A-C
gnomAD v4: 10-110573771-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110573771A>C , CM000672.2:g.110573771A>C GRCh38
NC_000010.10:g.112333529A>C , CM000672.1:g.112333529A>C GRCh37
NC_000010.9:g.112323519A>C NCBI36
NG_012217.1:g.11081A>C , LRG_774:g.11081A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.263+26A>C
ENST00000687823.1:n.45-1565A>C
ENST00000689932.1:n.629A>C
ENST00000691297.1:n.263+26A>C
ENST00000691527.1:n.220+26A>C
ENST00000692792.1:n.249+26A>C
ENST00000361804.5:c.130+26A>C MANE Select ENSP00000354720.5:n.130+26A>C
ENST00000361804.4:c.130+26A>C ENSP00000354720.4:n.130+26A>C
ENST00000462899.1:n.276+26A>C
NM_005445.3:c.130+26A>C , LRG_774t1:c.130+26A>C NP_005436.1:n.130+26A>C
NM_005445.4:c.130+26A>C MANE Select NP_005436.1:n.130+26A>C
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