Canonical Allele Identifier: CA5687638

Gene: SMC3

Linked Data

• dbSNP Id: rs747242466
• ExAC: 10:112335060 T / A
• gnomAD v2: 10-112335060-T-A
• gnomAD v4: 10-110575302-T-A
• MyVariant Identifiers: chr10:g.112335060T>A (hg19) ; chr10:g.110575302T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110575302T>A , CM000672.2:g.110575302T>A	GRCh38
NC_000010.10:g.112335060T>A , CM000672.1:g.112335060T>A	GRCh37
NC_000010.9:g.112325050T>A	NCBI36
NG_012217.1:g.12612T>A , LRG_774:g.12612T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.264-34T>A
ENST00000687823.1:n.45-34T>A
ENST00000689932.1:n.2160T>A
ENST00000691297.1:n.264-34T>A
ENST00000691527.1:n.221-34T>A
ENST00000692792.1:n.250-34T>A
ENST00000361804.5:c.131-34T>A MANE Select	ENSP00000354720.5:n.131-34T>A
ENST00000361804.4:c.131-34T>A	ENSP00000354720.4:n.131-34T>A
ENST00000462899.1:n.277-34T>A
NM_005445.3:c.131-34T>A , LRG_774t1:c.131-34T>A	NP_005436.1:n.131-34T>A
NM_005445.4:c.131-34T>A MANE Select	NP_005436.1:n.131-34T>A