Canonical Allele Identifier: CA378394437

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112361922T>G (hg19) ; chr10:g.110602164T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602164T>G , CM000672.2:g.110602164T>G	GRCh38
NC_000010.10:g.112361922T>G , CM000672.1:g.112361922T>G	GRCh37
NC_000010.9:g.112351912T>G	NCBI36
NG_012217.1:g.39474T>G , LRG_774:g.39474T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5324T>G
ENST00000685743.1:n.2799T>G
ENST00000686057.1:n.1442T>G
ENST00000689321.1:n.2054T>G
ENST00000689986.1:n.880T>G
ENST00000361804.5:c.3091T>G MANE Select	ENSP00000354720.5:p.Leu1031Val
ENST00000361804.4:c.3091T>G	ENSP00000354720.4:p.Leu1031Val
NM_005445.3:c.3091T>G , LRG_774t1:c.3091T>G	NP_005436.1:p.Leu1031Val
NM_005445.4:c.3091T>G MANE Select	NP_005436.1:p.Leu1031Val