Canonical Allele Identifier: CA2610884200
Gene: SMC3 HGNC NCBI

Linked Data

gnomAD v4: 10-110578803-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110578803C>A , CM000672.2:g.110578803C>A GRCh38
NC_000010.10:g.112338561C>A , CM000672.1:g.112338561C>A GRCh37
NC_000010.9:g.112328551C>A NCBI36
NG_012217.1:g.16113C>A , LRG_774:g.16113C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.562+97C>A
ENST00000687823.1:n.343+97C>A
ENST00000689932.1:n.2492+97C>A
ENST00000691297.1:n.562+97C>A
ENST00000691527.1:n.1232+97C>A
ENST00000692792.1:n.548+97C>A
ENST00000361804.5:c.429+97C>A MANE Select ENSP00000354720.5:n.429+97C>A
ENST00000361804.4:c.429+97C>A ENSP00000354720.4:n.429+97C>A
ENST00000462899.1:n.575+97C>A
NM_005445.3:c.429+97C>A , LRG_774t1:c.429+97C>A NP_005436.1:n.429+97C>A
NM_005445.4:c.429+97C>A MANE Select NP_005436.1:n.429+97C>A
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