Canonical Allele Identifier: CA378377200

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112341801T>A (hg19) ; chr10:g.110582043T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110582043T>A , CM000672.2:g.110582043T>A	GRCh38
NC_000010.10:g.112341801T>A , CM000672.1:g.112341801T>A	GRCh37
NC_000010.9:g.112331791T>A	NCBI36
NG_012217.1:g.19353T>A , LRG_774:g.19353T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.801T>A
ENST00000687823.1:n.582T>A
ENST00000689932.1:n.2731T>A
ENST00000691297.1:n.801T>A
ENST00000691527.1:n.1471T>A
ENST00000692792.1:n.787T>A
ENST00000361804.5:c.668T>A MANE Select	ENSP00000354720.5:p.Leu223Gln
ENST00000361804.4:c.668T>A	ENSP00000354720.4:p.Leu223Gln
NM_005445.3:c.668T>A , LRG_774t1:c.668T>A	NP_005436.1:p.Leu223Gln
NM_005445.4:c.668T>A MANE Select	NP_005436.1:p.Leu223Gln