Canonical Allele Identifier: CA378388074

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112349716G>T (hg19) ; chr10:g.110589958G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589958G>T , CM000672.2:g.110589958G>T	GRCh38
NC_000010.10:g.112349716G>T , CM000672.1:g.112349716G>T	GRCh37
NC_000010.9:g.112339706G>T	NCBI36
NG_012217.1:g.27268G>T , LRG_774:g.27268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1376G>T
ENST00000684988.1:n.2121G>T
ENST00000687823.1:n.1390G>T
ENST00000689932.1:n.3539G>T
ENST00000691297.1:n.1609G>T
ENST00000691527.1:n.2279G>T
ENST00000692792.1:n.1595G>T
ENST00000361804.5:c.1476G>T MANE Select	ENSP00000354720.5:p.Lys492Asn
ENST00000361804.4:c.1476G>T	ENSP00000354720.4:p.Lys492Asn
NM_005445.3:c.1476G>T , LRG_774t1:c.1476G>T	NP_005436.1:p.Lys492Asn
NM_005445.4:c.1476G>T MANE Select	NP_005436.1:p.Lys492Asn