Canonical Allele Identifier: CA378372075

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112337246T>C (hg19) ; chr10:g.110577488T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577488T>C , CM000672.2:g.110577488T>C	GRCh38
NC_000010.10:g.112337246T>C , CM000672.1:g.112337246T>C	GRCh37
NC_000010.9:g.112327236T>C	NCBI36
NG_012217.1:g.14798T>C , LRG_774:g.14798T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.399T>C
ENST00000687823.1:n.180T>C
ENST00000689932.1:n.2329T>C
ENST00000691297.1:n.399T>C
ENST00000691527.1:n.356T>C
ENST00000692792.1:n.385T>C
ENST00000361804.5:c.266T>C MANE Select	ENSP00000354720.5:p.Leu89Ser
ENST00000361804.4:c.266T>C	ENSP00000354720.4:p.Leu89Ser
ENST00000462899.1:n.412T>C
NM_005445.3:c.266T>C , LRG_774t1:c.266T>C	NP_005436.1:p.Leu89Ser
NM_005445.4:c.266T>C MANE Select	NP_005436.1:p.Leu89Ser