Canonical Allele Identifier: CA378394058

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112361765G>T (hg19) ; chr10:g.110602007G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602007G>T , CM000672.2:g.110602007G>T	GRCh38
NC_000010.10:g.112361765G>T , CM000672.1:g.112361765G>T	GRCh37
NC_000010.9:g.112351755G>T	NCBI36
NG_012217.1:g.39317G>T , LRG_774:g.39317G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5167G>T
ENST00000685743.1:n.2642G>T
ENST00000686057.1:n.1285G>T
ENST00000689321.1:n.1897G>T
ENST00000689986.1:n.723G>T
ENST00000361804.5:c.2934G>T MANE Select	ENSP00000354720.5:p.Lys978Asn
ENST00000361804.4:c.2934G>T	ENSP00000354720.4:p.Lys978Asn
NM_005445.3:c.2934G>T , LRG_774t1:c.2934G>T	NP_005436.1:p.Lys978Asn
NM_005445.4:c.2934G>T MANE Select	NP_005436.1:p.Lys978Asn