Canonical Allele Identifier: CA659801734

Gene: SMC3

Linked Data

• dbSNP Id: rs1182259470
• gnomAD v4: 10-110601585-T-C
• MyVariant Identifiers: chr10:g.112361343T>C (hg19) ; chr10:g.110601585T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601585T>C , CM000672.2:g.110601585T>C	GRCh38
NC_000010.10:g.112361343T>C , CM000672.1:g.112361343T>C	GRCh37
NC_000010.9:g.112351333T>C	NCBI36
NG_012217.1:g.38895T>C , LRG_774:g.38895T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.4878-52T>C
ENST00000685743.1:n.2301T>C
ENST00000686057.1:n.996-52T>C
ENST00000689321.1:n.1608-52T>C
ENST00000689986.1:n.434-52T>C
ENST00000361804.5:c.2645-52T>C MANE Select	ENSP00000354720.5:n.2645-52T>C
ENST00000361804.4:c.2645-52T>C	ENSP00000354720.4:n.2645-52T>C
NM_005445.3:c.2645-52T>C , LRG_774t1:c.2645-52T>C	NP_005436.1:n.2645-52T>C
NM_005445.4:c.2645-52T>C MANE Select	NP_005436.1:n.2645-52T>C