Canonical Allele Identifier: CA378394363
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110602131G>C , CM000672.2:g.110602131G>C GRCh38
NC_000010.10:g.112361889G>C , CM000672.1:g.112361889G>C GRCh37
NC_000010.9:g.112351879G>C NCBI36
NG_012217.1:g.39441G>C , LRG_774:g.39441G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5291G>C
ENST00000685743.1:n.2766G>C
ENST00000686057.1:n.1409G>C
ENST00000689321.1:n.2021G>C
ENST00000689986.1:n.847G>C
ENST00000361804.5:c.3058G>C MANE Select ENSP00000354720.5:p.Val1020Leu
ENST00000361804.4:c.3058G>C ENSP00000354720.4:p.Val1020Leu
NM_005445.3:c.3058G>C , LRG_774t1:c.3058G>C NP_005436.1:p.Val1020Leu
NM_005445.4:c.3058G>C MANE Select NP_005436.1:p.Val1020Leu