Canonical Allele Identifier: CA378372142

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112337249C>T (hg19) ; chr10:g.110577491C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577491C>T , CM000672.2:g.110577491C>T	GRCh38
NC_000010.10:g.112337249C>T , CM000672.1:g.112337249C>T	GRCh37
NC_000010.9:g.112327239C>T	NCBI36
NG_012217.1:g.14801C>T , LRG_774:g.14801C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.402C>T
ENST00000687823.1:n.183C>T
ENST00000689932.1:n.2332C>T
ENST00000691297.1:n.402C>T
ENST00000691527.1:n.359C>T
ENST00000692792.1:n.388C>T
ENST00000361804.5:c.269C>T MANE Select	ENSP00000354720.5:p.Pro90Leu
ENST00000361804.4:c.269C>T	ENSP00000354720.4:p.Pro90Leu
ENST00000462899.1:n.415C>T
NM_005445.3:c.269C>T , LRG_774t1:c.269C>T	NP_005436.1:p.Pro90Leu
NM_005445.4:c.269C>T MANE Select	NP_005436.1:p.Pro90Leu