Canonical Allele Identifier: CA2610888473

Gene: SMC3

Linked Data

• gnomAD v4: 10-110602218-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602222dup , CM000672.2:g.110602222dup	GRCh38
NC_000010.10:g.112361980dup , CM000672.1:g.112361980dup	GRCh37
NC_000010.9:g.112351970dup	NCBI36
NG_012217.1:g.39532dup , LRG_774:g.39532dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5338+44dup
ENST00000685743.1:n.2813+44dup
ENST00000686057.1:n.1456+44dup
ENST00000689321.1:n.2068+44dup
ENST00000689986.1:n.894+44dup
ENST00000361804.5:c.3105+44dup MANE Select	ENSP00000354720.5:n.3105+44dup
ENST00000361804.4:c.3105+44dup	ENSP00000354720.4:n.3105+44dup
NM_005445.3:c.3105+44dup , LRG_774t1:c.3105+44dup	NP_005436.1:n.3105+44dup
NM_005445.4:c.3105+44dup MANE Select	NP_005436.1:n.3105+44dup