Canonical Allele Identifier: CA378369466

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112333497T>C (hg19) ; chr10:g.110573739T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573739T>C , CM000672.2:g.110573739T>C	GRCh38
NC_000010.10:g.112333497T>C , CM000672.1:g.112333497T>C	GRCh37
NC_000010.9:g.112323487T>C	NCBI36
NG_012217.1:g.11049T>C , LRG_774:g.11049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.257T>C
ENST00000687823.1:n.45-1597T>C
ENST00000689932.1:n.597T>C
ENST00000691297.1:n.257T>C
ENST00000691527.1:n.214T>C
ENST00000692792.1:n.243T>C
ENST00000361804.5:c.124T>C MANE Select	ENSP00000354720.5:p.Phe42Leu
ENST00000361804.4:c.124T>C	ENSP00000354720.4:p.Phe42Leu
ENST00000462899.1:n.270T>C
NM_005445.3:c.124T>C , LRG_774t1:c.124T>C	NP_005436.1:p.Phe42Leu
NM_005445.4:c.124T>C MANE Select	NP_005436.1:p.Phe42Leu