Canonical Allele Identifier: CA378393478

Gene: SMC3

Linked Data

• gnomAD v4: 10-110601689-G-C
• MyVariant Identifiers: chr10:g.112361447G>C (hg19) ; chr10:g.110601689G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601689G>C , CM000672.2:g.110601689G>C	GRCh38
NC_000010.10:g.112361447G>C , CM000672.1:g.112361447G>C	GRCh37
NC_000010.9:g.112351437G>C	NCBI36
NG_012217.1:g.38999G>C , LRG_774:g.38999G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.4930G>C
ENST00000685743.1:n.2405G>C
ENST00000686057.1:n.1048G>C
ENST00000689321.1:n.1660G>C
ENST00000689986.1:n.486G>C
ENST00000361804.5:c.2697G>C MANE Select	ENSP00000354720.5:p.Lys899Asn
ENST00000361804.4:c.2697G>C	ENSP00000354720.4:p.Lys899Asn
NM_005445.3:c.2697G>C , LRG_774t1:c.2697G>C	NP_005436.1:p.Lys899Asn
NM_005445.4:c.2697G>C MANE Select	NP_005436.1:p.Lys899Asn