Canonical Allele Identifier: CA378373868
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110578663G>A , CM000672.2:g.110578663G>A GRCh38
NC_000010.10:g.112338421G>A , CM000672.1:g.112338421G>A GRCh37
NC_000010.9:g.112328411G>A NCBI36
NG_012217.1:g.15973G>A , LRG_774:g.15973G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684988.1:n.519G>A
ENST00000687823.1:n.300G>A
ENST00000689932.1:n.2449G>A
ENST00000691297.1:n.519G>A
ENST00000691527.1:n.1189G>A
ENST00000692792.1:n.505G>A
ENST00000361804.5:c.386G>A MANE Select ENSP00000354720.5:p.Gly129Asp
ENST00000361804.4:c.386G>A ENSP00000354720.4:p.Gly129Asp
ENST00000462899.1:n.532G>A
NM_005445.3:c.386G>A , LRG_774t1:c.386G>A NP_005436.1:p.Gly129Asp
NM_005445.4:c.386G>A MANE Select NP_005436.1:p.Gly129Asp