Canonical Allele Identifier: CA378372152
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110577493G>A , CM000672.2:g.110577493G>A GRCh38
NC_000010.10:g.112337251G>A , CM000672.1:g.112337251G>A GRCh37
NC_000010.9:g.112327241G>A NCBI36
NG_012217.1:g.14803G>A , LRG_774:g.14803G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684988.1:n.403+1G>A
ENST00000687823.1:n.184+1G>A
ENST00000689932.1:n.2333+1G>A
ENST00000691297.1:n.403+1G>A
ENST00000691527.1:n.360+1G>A
ENST00000692792.1:n.389+1G>A
ENST00000361804.5:c.270+1G>A MANE Select ENSP00000354720.5:n.270+1G>A
ENST00000361804.4:c.270+1G>A ENSP00000354720.4:n.270+1G>A
ENST00000462899.1:n.416+1G>A
NM_005445.3:c.270+1G>A , LRG_774t1:c.270+1G>A NP_005436.1:n.270+1G>A
NM_005445.4:c.270+1G>A MANE Select NP_005436.1:n.270+1G>A