Canonical Allele Identifier: CA378376294
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110582006G>C , CM000672.2:g.110582006G>C GRCh38
NC_000010.10:g.112341764G>C , CM000672.1:g.112341764G>C GRCh37
NC_000010.9:g.112331754G>C NCBI36
NG_012217.1:g.19316G>C , LRG_774:g.19316G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.764G>C
ENST00000687823.1:n.545G>C
ENST00000689932.1:n.2694G>C
ENST00000691297.1:n.764G>C
ENST00000691527.1:n.1434G>C
ENST00000692792.1:n.750G>C
ENST00000361804.5:c.631G>C MANE Select ENSP00000354720.5:p.Ala211Pro
ENST00000361804.4:c.631G>C ENSP00000354720.4:p.Ala211Pro
ENST00000462899.1:n.777G>C
NM_005445.3:c.631G>C , LRG_774t1:c.631G>C NP_005436.1:p.Ala211Pro
NM_005445.4:c.631G>C MANE Select NP_005436.1:p.Ala211Pro