Canonical Allele Identifier: CA378393578
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 806567
ClinVar RCV Id: RCV000994503
dbSNP Id: rs1590570855

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601728G>C , CM000672.2:g.110601728G>C GRCh38
NC_000010.10:g.112361486G>C , CM000672.1:g.112361486G>C GRCh37
NC_000010.9:g.112351476G>C NCBI36
NG_012217.1:g.39038G>C , LRG_774:g.39038G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.4969G>C
ENST00000685743.1:n.2444G>C
ENST00000686057.1:n.1087G>C
ENST00000689321.1:n.1699G>C
ENST00000689986.1:n.525G>C
ENST00000361804.5:c.2736G>C MANE Select ENSP00000354720.5:p.Met912Ile
ENST00000361804.4:c.2736G>C ENSP00000354720.4:p.Met912Ile
NM_005445.3:c.2736G>C , LRG_774t1:c.2736G>C NP_005436.1:p.Met912Ile
NM_005445.4:c.2736G>C MANE Select NP_005436.1:p.Met912Ile