Canonical Allele Identifier: CA2610887840

Gene: SMC3

Linked Data

• gnomAD v4: 10-110573794-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573794A>G , CM000672.2:g.110573794A>G	GRCh38
NC_000010.10:g.112333552A>G , CM000672.1:g.112333552A>G	GRCh37
NC_000010.9:g.112323542A>G	NCBI36
NG_012217.1:g.11104A>G , LRG_774:g.11104A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.263+49A>G
ENST00000687823.1:n.45-1542A>G
ENST00000689932.1:n.652A>G
ENST00000691297.1:n.263+49A>G
ENST00000691527.1:n.220+49A>G
ENST00000692792.1:n.249+49A>G
ENST00000361804.5:c.130+49A>G MANE Select	ENSP00000354720.5:n.130+49A>G
ENST00000361804.4:c.130+49A>G	ENSP00000354720.4:n.130+49A>G
ENST00000462899.1:n.276+49A>G
NM_005445.3:c.130+49A>G , LRG_774t1:c.130+49A>G	NP_005436.1:n.130+49A>G
NM_005445.4:c.130+49A>G MANE Select	NP_005436.1:n.130+49A>G