Canonical Allele Identifier: CA378377332

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112341822A>C (hg19) ; chr10:g.110582064A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110582064A>C , CM000672.2:g.110582064A>C	GRCh38
NC_000010.10:g.112341822A>C , CM000672.1:g.112341822A>C	GRCh37
NC_000010.9:g.112331812A>C	NCBI36
NG_012217.1:g.19374A>C , LRG_774:g.19374A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.822A>C
ENST00000687823.1:n.603A>C
ENST00000689932.1:n.2752A>C
ENST00000691297.1:n.822A>C
ENST00000691527.1:n.1492A>C
ENST00000692792.1:n.808A>C
ENST00000361804.5:c.689A>C MANE Select	ENSP00000354720.5:p.Gln230Pro
ENST00000361804.4:c.689A>C	ENSP00000354720.4:p.Gln230Pro
NM_005445.3:c.689A>C , LRG_774t1:c.689A>C	NP_005436.1:p.Gln230Pro
NM_005445.4:c.689A>C MANE Select	NP_005436.1:p.Gln230Pro