Canonical Allele Identifier: CA378373864

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112338420G>C (hg19) ; chr10:g.110578662G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578662G>C , CM000672.2:g.110578662G>C	GRCh38
NC_000010.10:g.112338420G>C , CM000672.1:g.112338420G>C	GRCh37
NC_000010.9:g.112328410G>C	NCBI36
NG_012217.1:g.15972G>C , LRG_774:g.15972G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.518G>C
ENST00000687823.1:n.299G>C
ENST00000689932.1:n.2448G>C
ENST00000691297.1:n.518G>C
ENST00000691527.1:n.1188G>C
ENST00000692792.1:n.504G>C
ENST00000361804.5:c.385G>C MANE Select	ENSP00000354720.5:p.Gly129Arg
ENST00000361804.4:c.385G>C	ENSP00000354720.4:p.Gly129Arg
ENST00000462899.1:n.531G>C
NM_005445.3:c.385G>C , LRG_774t1:c.385G>C	NP_005436.1:p.Gly129Arg
NM_005445.4:c.385G>C MANE Select	NP_005436.1:p.Gly129Arg