Canonical Allele Identifier: CA2610885216
Gene: SMC3 HGNC NCBI

Linked Data

dbSNP Id: rs1861034894
gnomAD v4: 10-110581867-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110581867G>A , CM000672.2:g.110581867G>A GRCh38
NC_000010.10:g.112341625G>A , CM000672.1:g.112341625G>A GRCh37
NC_000010.9:g.112331615G>A NCBI36
NG_012217.1:g.19177G>A , LRG_774:g.19177G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684988.1:n.681-56G>A
ENST00000687823.1:n.462-56G>A
ENST00000689932.1:n.2611-56G>A
ENST00000691297.1:n.681-56G>A
ENST00000691527.1:n.1351-56G>A
ENST00000692792.1:n.667-56G>A
ENST00000361804.5:c.548-56G>A MANE Select ENSP00000354720.5:n.548-56G>A
ENST00000361804.4:c.548-56G>A ENSP00000354720.4:n.548-56G>A
ENST00000462899.1:n.694-56G>A
NM_005445.3:c.548-56G>A , LRG_774t1:c.548-56G>A NP_005436.1:n.548-56G>A
NM_005445.4:c.548-56G>A MANE Select NP_005436.1:n.548-56G>A
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