Canonical Allele Identifier: CA2789480202
Gene: SMC3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110573757T>A , CM000672.2:g.110573757T>A GRCh38
NC_000010.10:g.112333515T>A , CM000672.1:g.112333515T>A GRCh37
NC_000010.9:g.112323505T>A NCBI36
NG_012217.1:g.11067T>A , LRG_774:g.11067T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684988.1:n.263+12T>A
ENST00000687823.1:n.45-1579T>A
ENST00000689932.1:n.615T>A
ENST00000691297.1:n.263+12T>A
ENST00000691527.1:n.220+12T>A
ENST00000692792.1:n.249+12T>A
ENST00000361804.5:c.130+12T>A MANE Select ENSP00000354720.5:n.130+12T>A
ENST00000361804.4:c.130+12T>A ENSP00000354720.4:n.130+12T>A
ENST00000462899.1:n.276+12T>A
NM_005445.3:c.130+12T>A , LRG_774t1:c.130+12T>A NP_005436.1:n.130+12T>A
NM_005445.4:c.130+12T>A MANE Select NP_005436.1:n.130+12T>A
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