Canonical Allele Identifier: CA2610887872
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601711dup , CM000672.2:g.110601711dup GRCh38
NC_000010.10:g.112361469dup , CM000672.1:g.112361469dup GRCh37
NC_000010.9:g.112351459dup NCBI36
NG_012217.1:g.39021dup , LRG_774:g.39021dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.4952dup
ENST00000685743.1:n.2427dup
ENST00000686057.1:n.1070dup
ENST00000689321.1:n.1682dup
ENST00000689986.1:n.508dup
ENST00000361804.5:c.2719dup MANE Select ENSP00000354720.5:p.Met907AsnfsTer12
ENST00000361804.4:c.2719dup ENSP00000354720.4:p.Met907AsnfsTer12
NM_005445.3:c.2719dup , LRG_774t1:c.2719dup NP_005436.1:p.Met907AsnfsTer12
NM_005445.4:c.2719dup MANE Select NP_005436.1:p.Met907AsnfsTer12