Canonical Allele Identifier: CA378373885

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112338425T>G (hg19) ; chr10:g.110578667T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578667T>G , CM000672.2:g.110578667T>G	GRCh38
NC_000010.10:g.112338425T>G , CM000672.1:g.112338425T>G	GRCh37
NC_000010.9:g.112328415T>G	NCBI36
NG_012217.1:g.15977T>G , LRG_774:g.15977T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.523T>G
ENST00000687823.1:n.304T>G
ENST00000689932.1:n.2453T>G
ENST00000691297.1:n.523T>G
ENST00000691527.1:n.1193T>G
ENST00000692792.1:n.509T>G
ENST00000361804.5:c.390T>G MANE Select	ENSP00000354720.5:p.Phe130Leu
ENST00000361804.4:c.390T>G	ENSP00000354720.4:p.Phe130Leu
ENST00000462899.1:n.536T>G
NM_005445.3:c.390T>G , LRG_774t1:c.390T>G	NP_005436.1:p.Phe130Leu
NM_005445.4:c.390T>G MANE Select	NP_005436.1:p.Phe130Leu