Canonical Allele Identifier: CA213225425

Gene: SMC3

Linked Data

• dbSNP Id: rs566186735
• gnomAD v2: 10-112333248-T-C
• gnomAD v3: 10-110573490-T-C
• gnomAD v4: 10-110573490-T-C
• MyVariant Identifiers: chr10:g.112333248T>C (hg19) ; chr10:g.110573490T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573490T>C , CM000672.2:g.110573490T>C	GRCh38
NC_000010.10:g.112333248T>C , CM000672.1:g.112333248T>C	GRCh37
NC_000010.9:g.112323238T>C	NCBI36
NG_012217.1:g.10800T>C , LRG_774:g.10800T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.225-217T>C
ENST00000687823.1:n.45-1846T>C
ENST00000689932.1:n.348T>C
ENST00000691297.1:n.225-217T>C
ENST00000691527.1:n.182-217T>C
ENST00000692792.1:n.211-217T>C
ENST00000361804.5:c.92-217T>C MANE Select	ENSP00000354720.5:n.92-217T>C
ENST00000361804.4:c.92-217T>C	ENSP00000354720.4:n.92-217T>C
ENST00000462899.1:n.238-217T>C
NM_005445.3:c.92-217T>C , LRG_774t1:c.92-217T>C	NP_005436.1:n.92-217T>C
NM_005445.4:c.92-217T>C MANE Select	NP_005436.1:n.92-217T>C