Canonical Allele Identifier: CA378394342

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112361881T>A (hg19) ; chr10:g.110602123T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602123T>A , CM000672.2:g.110602123T>A	GRCh38
NC_000010.10:g.112361881T>A , CM000672.1:g.112361881T>A	GRCh37
NC_000010.9:g.112351871T>A	NCBI36
NG_012217.1:g.39433T>A , LRG_774:g.39433T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5283T>A
ENST00000685743.1:n.2758T>A
ENST00000686057.1:n.1401T>A
ENST00000689321.1:n.2013T>A
ENST00000689986.1:n.839T>A
ENST00000361804.5:c.3050T>A MANE Select	ENSP00000354720.5:p.Leu1017Gln
ENST00000361804.4:c.3050T>A	ENSP00000354720.4:p.Leu1017Gln
NM_005445.3:c.3050T>A , LRG_774t1:c.3050T>A	NP_005436.1:p.Leu1017Gln
NM_005445.4:c.3050T>A MANE Select	NP_005436.1:p.Leu1017Gln