Canonical Allele Identifier: CA596112077

Gene: SMC3

Linked Data

• dbSNP Id: rs1202113732
• gnomAD v2: 10-112361314-T-G
• gnomAD v3: 10-110601556-T-G
• gnomAD v4: 10-110601556-T-G
• MyVariant Identifiers: chr10:g.112361314T>G (hg19) ; chr10:g.110601556T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601556T>G , CM000672.2:g.110601556T>G	GRCh38
NC_000010.10:g.112361314T>G , CM000672.1:g.112361314T>G	GRCh37
NC_000010.9:g.112351304T>G	NCBI36
NG_012217.1:g.38866T>G , LRG_774:g.38866T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.4878-81T>G
ENST00000685743.1:n.2272T>G
ENST00000686057.1:n.996-81T>G
ENST00000689321.1:n.1608-81T>G
ENST00000689986.1:n.434-81T>G
ENST00000361804.5:c.2645-81T>G MANE Select	ENSP00000354720.5:n.2645-81T>G
ENST00000361804.4:c.2645-81T>G	ENSP00000354720.4:n.2645-81T>G
NM_005445.3:c.2645-81T>G , LRG_774t1:c.2645-81T>G	NP_005436.1:n.2645-81T>G
NM_005445.4:c.2645-81T>G MANE Select	NP_005436.1:n.2645-81T>G