Canonical Allele Identifier: CA378388066

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112349715A>T (hg19) ; chr10:g.110589957A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589957A>T , CM000672.2:g.110589957A>T	GRCh38
NC_000010.10:g.112349715A>T , CM000672.1:g.112349715A>T	GRCh37
NC_000010.9:g.112339705A>T	NCBI36
NG_012217.1:g.27267A>T , LRG_774:g.27267A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684797.1:n.1375A>T
ENST00000684988.1:n.2120A>T
ENST00000687823.1:n.1389A>T
ENST00000689932.1:n.3538A>T
ENST00000691297.1:n.1608A>T
ENST00000691527.1:n.2278A>T
ENST00000692792.1:n.1594A>T
ENST00000361804.5:c.1475A>T MANE Select	ENSP00000354720.5:p.Lys492Met
ENST00000361804.4:c.1475A>T	ENSP00000354720.4:p.Lys492Met
NM_005445.3:c.1475A>T , LRG_774t1:c.1475A>T	NP_005436.1:p.Lys492Met
NM_005445.4:c.1475A>T MANE Select	NP_005436.1:p.Lys492Met