Canonical Allele Identifier: CA378376369

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112341780G>A (hg19) ; chr10:g.110582022G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110582022G>A , CM000672.2:g.110582022G>A	GRCh38
NC_000010.10:g.112341780G>A , CM000672.1:g.112341780G>A	GRCh37
NC_000010.9:g.112331770G>A	NCBI36
NG_012217.1:g.19332G>A , LRG_774:g.19332G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.780G>A
ENST00000687823.1:n.561G>A
ENST00000689932.1:n.2710G>A
ENST00000691297.1:n.780G>A
ENST00000691527.1:n.1450G>A
ENST00000692792.1:n.766G>A
ENST00000361804.5:c.647G>A MANE Select	ENSP00000354720.5:p.Trp216Ter
ENST00000361804.4:c.647G>A	ENSP00000354720.4:p.Trp216Ter
NM_005445.3:c.647G>A , LRG_774t1:c.647G>A	NP_005436.1:p.Trp216Ter
NM_005445.4:c.647G>A MANE Select	NP_005436.1:p.Trp216Ter