Canonical Allele Identifier: CA471371934
Gene: SMC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112349689T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110589931T>G , CM000672.2:g.110589931T>G GRCh38
NC_000010.10:g.112349689T>G , CM000672.1:g.112349689T>G GRCh37
NC_000010.9:g.112339679T>G NCBI36
NG_012217.1:g.27241T>G , LRG_774:g.27241T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684797.1:n.1349T>G
ENST00000684988.1:n.2094T>G
ENST00000687823.1:n.1363T>G
ENST00000689932.1:n.3512T>G
ENST00000691297.1:n.1582T>G
ENST00000691527.1:n.2252T>G
ENST00000692792.1:n.1568T>G
ENST00000361804.5:c.1449T>G MANE Select ENSP00000354720.5:p.Leu483=
ENST00000361804.4:c.1449T>G ENSP00000354720.4:p.Leu483=
NM_005445.3:c.1449T>G , LRG_774t1:c.1449T>G NP_005436.1:p.Leu483=
NM_005445.4:c.1449T>G MANE Select NP_005436.1:p.Leu483=