Canonical Allele Identifier: CA378373879

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112338423T>G (hg19) ; chr10:g.110578665T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578665T>G , CM000672.2:g.110578665T>G	GRCh38
NC_000010.10:g.112338423T>G , CM000672.1:g.112338423T>G	GRCh37
NC_000010.9:g.112328413T>G	NCBI36
NG_012217.1:g.15975T>G , LRG_774:g.15975T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.521T>G
ENST00000687823.1:n.302T>G
ENST00000689932.1:n.2451T>G
ENST00000691297.1:n.521T>G
ENST00000691527.1:n.1191T>G
ENST00000692792.1:n.507T>G
ENST00000361804.5:c.388T>G MANE Select	ENSP00000354720.5:p.Phe130Val
ENST00000361804.4:c.388T>G	ENSP00000354720.4:p.Phe130Val
ENST00000462899.1:n.534T>G
NM_005445.3:c.388T>G , LRG_774t1:c.388T>G	NP_005436.1:p.Phe130Val
NM_005445.4:c.388T>G MANE Select	NP_005436.1:p.Phe130Val