Canonical Allele Identifier: CA5688340

Gene: SMC3

Linked Data

• dbSNP Id: rs766781181
• ExAC: 10:112361961 C / T
• gnomAD v2: 10-112361961-C-T
• gnomAD v4: 10-110602203-C-T
• MyVariant Identifiers: chr10:g.112361961C>T (hg19) ; chr10:g.112361961_112361963delinsTAT (hg19) ; chr10:g.110602203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602203C>T , CM000672.2:g.110602203C>T	GRCh38
NC_000010.10:g.112361961C>T , CM000672.1:g.112361961C>T	GRCh37
NC_000010.9:g.112351951C>T	NCBI36
NG_012217.1:g.39513C>T , LRG_774:g.39513C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5338+25C>T
ENST00000685743.1:n.2813+25C>T
ENST00000686057.1:n.1456+25C>T
ENST00000689321.1:n.2068+25C>T
ENST00000689986.1:n.894+25C>T
ENST00000361804.5:c.3105+25C>T MANE Select	ENSP00000354720.5:n.3105+25C>T
ENST00000361804.4:c.3105+25C>T	ENSP00000354720.4:n.3105+25C>T
NM_005445.3:c.3105+25C>T , LRG_774t1:c.3105+25C>T	NP_005436.1:n.3105+25C>T
NM_005445.4:c.3105+25C>T MANE Select	NP_005436.1:n.3105+25C>T