Canonical Allele Identifier: CA378369447
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110573736T>C , CM000672.2:g.110573736T>C GRCh38
NC_000010.10:g.112333494T>C , CM000672.1:g.112333494T>C GRCh37
NC_000010.9:g.112323484T>C NCBI36
NG_012217.1:g.11046T>C , LRG_774:g.11046T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.254T>C
ENST00000687823.1:n.45-1600T>C
ENST00000689932.1:n.594T>C
ENST00000691297.1:n.254T>C
ENST00000691527.1:n.211T>C
ENST00000692792.1:n.240T>C
ENST00000361804.5:c.121T>C MANE Select ENSP00000354720.5:p.Phe41Leu
ENST00000361804.4:c.121T>C ENSP00000354720.4:p.Phe41Leu
ENST00000462899.1:n.267T>C
NM_005445.3:c.121T>C , LRG_774t1:c.121T>C NP_005436.1:p.Phe41Leu
NM_005445.4:c.121T>C MANE Select NP_005436.1:p.Phe41Leu