Canonical Allele Identifier: CA471371929
Gene: SMC3 HGNC NCBI

Linked Data

dbSNP Id: rs1590561383
MyVariant Identifiers: chr10:g.112349686A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110589928A>C , CM000672.2:g.110589928A>C GRCh38
NC_000010.10:g.112349686A>C , CM000672.1:g.112349686A>C GRCh37
NC_000010.9:g.112339676A>C NCBI36
NG_012217.1:g.27238A>C , LRG_774:g.27238A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684797.1:n.1346A>C
ENST00000684988.1:n.2091A>C
ENST00000687823.1:n.1360A>C
ENST00000689932.1:n.3509A>C
ENST00000691297.1:n.1579A>C
ENST00000691527.1:n.2249A>C
ENST00000692792.1:n.1565A>C
ENST00000361804.5:c.1446A>C MANE Select ENSP00000354720.5:p.Ala482=
ENST00000361804.4:c.1446A>C ENSP00000354720.4:p.Ala482=
NM_005445.3:c.1446A>C , LRG_774t1:c.1446A>C NP_005436.1:p.Ala482=
NM_005445.4:c.1446A>C MANE Select NP_005436.1:p.Ala482=