Canonical Allele Identifier: CA5688272

Gene: SMC3

Linked Data

• dbSNP Id: rs369169661
• ExAC: 10:112361405 T / C
• gnomAD v2: 10-112361405-T-C
• gnomAD v4: 10-110601647-T-C
• MyVariant Identifiers: chr10:g.112361405T>C (hg19) ; chr10:g.110601647T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601647T>C , CM000672.2:g.110601647T>C	GRCh38
NC_000010.10:g.112361405T>C , CM000672.1:g.112361405T>C	GRCh37
NC_000010.9:g.112351395T>C	NCBI36
NG_012217.1:g.38957T>C , LRG_774:g.38957T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.4888T>C
ENST00000685743.1:n.2363T>C
ENST00000686057.1:n.1006T>C
ENST00000689321.1:n.1618T>C
ENST00000689986.1:n.444T>C
ENST00000361804.5:c.2655T>C MANE Select	ENSP00000354720.5:p.Asn885=
ENST00000361804.4:c.2655T>C	ENSP00000354720.4:p.Asn885=
NM_005445.3:c.2655T>C , LRG_774t1:c.2655T>C	NP_005436.1:p.Asn885=
NM_005445.4:c.2655T>C MANE Select	NP_005436.1:p.Asn885=