Canonical Allele Identifier: CA2610888446

Gene: SMC3

Linked Data

• dbSNP Id: rs1861398256
• gnomAD v4: 10-110602211-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602211C>T , CM000672.2:g.110602211C>T	GRCh38
NC_000010.10:g.112361969C>T , CM000672.1:g.112361969C>T	GRCh37
NC_000010.9:g.112351959C>T	NCBI36
NG_012217.1:g.39521C>T , LRG_774:g.39521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5338+33C>T
ENST00000685743.1:n.2813+33C>T
ENST00000686057.1:n.1456+33C>T
ENST00000689321.1:n.2068+33C>T
ENST00000689986.1:n.894+33C>T
ENST00000361804.5:c.3105+33C>T MANE Select	ENSP00000354720.5:n.3105+33C>T
ENST00000361804.4:c.3105+33C>T	ENSP00000354720.4:n.3105+33C>T
NM_005445.3:c.3105+33C>T , LRG_774t1:c.3105+33C>T	NP_005436.1:n.3105+33C>T
NM_005445.4:c.3105+33C>T MANE Select	NP_005436.1:n.3105+33C>T