Canonical Allele Identifier: CA378387691

Gene: SMC3

Linked Data

• gnomAD v4: 10-110589914-G-A
• MyVariant Identifiers: chr10:g.112349672G>A (hg19) ; chr10:g.110589914G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589914G>A , CM000672.2:g.110589914G>A	GRCh38
NC_000010.10:g.112349672G>A , CM000672.1:g.112349672G>A	GRCh37
NC_000010.9:g.112339662G>A	NCBI36
NG_012217.1:g.27224G>A , LRG_774:g.27224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1332G>A
ENST00000684988.1:n.2077G>A
ENST00000687823.1:n.1346G>A
ENST00000689932.1:n.3495G>A
ENST00000691297.1:n.1565G>A
ENST00000691527.1:n.2235G>A
ENST00000692792.1:n.1551G>A
ENST00000361804.5:c.1432G>A MANE Select	ENSP00000354720.5:p.Ala478Thr
ENST00000361804.4:c.1432G>A	ENSP00000354720.4:p.Ala478Thr
NM_005445.3:c.1432G>A , LRG_774t1:c.1432G>A	NP_005436.1:p.Ala478Thr
NM_005445.4:c.1432G>A MANE Select	NP_005436.1:p.Ala478Thr