Canonical Allele Identifier: CA378370091
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110575405T>A , CM000672.2:g.110575405T>A GRCh38
NC_000010.10:g.112335163T>A , CM000672.1:g.112335163T>A GRCh37
NC_000010.9:g.112325153T>A NCBI36
NG_012217.1:g.12715T>A , LRG_774:g.12715T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.331+2T>A
ENST00000687823.1:n.112+2T>A
ENST00000689932.1:n.2261+2T>A
ENST00000691297.1:n.331+2T>A
ENST00000691527.1:n.288+2T>A
ENST00000692792.1:n.317+2T>A
ENST00000361804.5:c.198+2T>A MANE Select ENSP00000354720.5:n.198+2T>A
ENST00000361804.4:c.198+2T>A ENSP00000354720.4:n.198+2T>A
ENST00000462899.1:n.344+2T>A
NM_005445.3:c.198+2T>A , LRG_774t1:c.198+2T>A NP_005436.1:n.198+2T>A
NM_005445.4:c.198+2T>A MANE Select NP_005436.1:n.198+2T>A