Canonical Allele Identifier: CA378376364
Gene: SMC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112341779T>C (hg19) chr10:g.110582021T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110582021T>C , CM000672.2:g.110582021T>C GRCh38
NC_000010.10:g.112341779T>C , CM000672.1:g.112341779T>C GRCh37
NC_000010.9:g.112331769T>C NCBI36
NG_012217.1:g.19331T>C , LRG_774:g.19331T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.779T>C
ENST00000687823.1:n.560T>C
ENST00000689932.1:n.2709T>C
ENST00000691297.1:n.779T>C
ENST00000691527.1:n.1449T>C
ENST00000692792.1:n.765T>C
ENST00000361804.5:c.646T>C MANE Select ENSP00000354720.5:p.Trp216Arg
ENST00000361804.4:c.646T>C ENSP00000354720.4:p.Trp216Arg
NM_005445.3:c.646T>C , LRG_774t1:c.646T>C NP_005436.1:p.Trp216Arg
NM_005445.4:c.646T>C MANE Select NP_005436.1:p.Trp216Arg
Search 100 bp 5'
Search 100 bp 3'