Canonical Allele Identifier: CA471370362
Gene: SMC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112338410T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110578652T>G , CM000672.2:g.110578652T>G GRCh38
NC_000010.10:g.112338410T>G , CM000672.1:g.112338410T>G GRCh37
NC_000010.9:g.112328400T>G NCBI36
NG_012217.1:g.15962T>G , LRG_774:g.15962T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.508T>G
ENST00000687823.1:n.289T>G
ENST00000689932.1:n.2438T>G
ENST00000691297.1:n.508T>G
ENST00000691527.1:n.1178T>G
ENST00000692792.1:n.494T>G
ENST00000361804.5:c.375T>G MANE Select ENSP00000354720.5:p.Leu125=
ENST00000361804.4:c.375T>G ENSP00000354720.4:p.Leu125=
ENST00000462899.1:n.521T>G
NM_005445.3:c.375T>G , LRG_774t1:c.375T>G NP_005436.1:p.Leu125=
NM_005445.4:c.375T>G MANE Select NP_005436.1:p.Leu125=