Canonical Allele Identifier: CA378369467
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110573739T>G , CM000672.2:g.110573739T>G GRCh38
NC_000010.10:g.112333497T>G , CM000672.1:g.112333497T>G GRCh37
NC_000010.9:g.112323487T>G NCBI36
NG_012217.1:g.11049T>G , LRG_774:g.11049T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.257T>G
ENST00000687823.1:n.45-1597T>G
ENST00000689932.1:n.597T>G
ENST00000691297.1:n.257T>G
ENST00000691527.1:n.214T>G
ENST00000692792.1:n.243T>G
ENST00000361804.5:c.124T>G MANE Select ENSP00000354720.5:p.Phe42Val
ENST00000361804.4:c.124T>G ENSP00000354720.4:p.Phe42Val
ENST00000462899.1:n.270T>G
NM_005445.3:c.124T>G , LRG_774t1:c.124T>G NP_005436.1:p.Phe42Val
NM_005445.4:c.124T>G MANE Select NP_005436.1:p.Phe42Val