Canonical Allele Identifier: CA471368242
Gene: SMC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112335110C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110575352C>G , CM000672.2:g.110575352C>G GRCh38
NC_000010.10:g.112335110C>G , CM000672.1:g.112335110C>G GRCh37
NC_000010.9:g.112325100C>G NCBI36
NG_012217.1:g.12662C>G , LRG_774:g.12662C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.280C>G
ENST00000687823.1:n.61C>G
ENST00000689932.1:n.2210C>G
ENST00000691297.1:n.280C>G
ENST00000691527.1:n.237C>G
ENST00000692792.1:n.266C>G
ENST00000361804.5:c.147C>G MANE Select ENSP00000354720.5:p.Leu49=
ENST00000361804.4:c.147C>G ENSP00000354720.4:p.Leu49=
ENST00000462899.1:n.293C>G
NM_005445.3:c.147C>G , LRG_774t1:c.147C>G NP_005436.1:p.Leu49=
NM_005445.4:c.147C>G MANE Select NP_005436.1:p.Leu49=