Canonical Allele Identifier: CA471368005

Gene: SMC3

Linked Data

• gnomAD v4: 10-110573723-T-C
• MyVariant Identifiers: chr10:g.112333481T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573723T>C , CM000672.2:g.110573723T>C	GRCh38
NC_000010.10:g.112333481T>C , CM000672.1:g.112333481T>C	GRCh37
NC_000010.9:g.112323471T>C	NCBI36
NG_012217.1:g.11033T>C , LRG_774:g.11033T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.241T>C
ENST00000687823.1:n.45-1613T>C
ENST00000689932.1:n.581T>C
ENST00000691297.1:n.241T>C
ENST00000691527.1:n.198T>C
ENST00000692792.1:n.227T>C
ENST00000361804.5:c.108T>C MANE Select	ENSP00000354720.5:p.Ser36=
ENST00000361804.4:c.108T>C	ENSP00000354720.4:p.Ser36=
ENST00000462899.1:n.254T>C
NM_005445.3:c.108T>C , LRG_774t1:c.108T>C	NP_005436.1:p.Ser36=
NM_005445.4:c.108T>C MANE Select	NP_005436.1:p.Ser36=