Canonical Allele Identifier: CA471370360
Gene: SMC3 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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