Canonical Allele Identifier: CA204618
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 208656
dbSNP Id: rs797044861

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601742A>C , CM000672.2:g.110601742A>C GRCh38
NC_000010.10:g.112361500A>C , CM000672.1:g.112361500A>C GRCh37
NC_000010.9:g.112351490A>C NCBI36
NG_012217.1:g.39052A>C , LRG_774:g.39052A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684988.1:n.4983A>C
ENST00000685743.1:n.2458A>C
ENST00000686057.1:n.1101A>C
ENST00000689321.1:n.1713A>C
ENST00000689986.1:n.539A>C
ENST00000361804.5:c.2750A>C MANE Select ENSP00000354720.5:p.His917Pro
ENST00000361804.4:c.2750A>C ENSP00000354720.4:p.His917Pro
NM_005445.3:c.2750A>C , LRG_774t1:c.2750A>C NP_005436.1:p.His917Pro
NM_005445.4:c.2750A>C MANE Select NP_005436.1:p.His917Pro