Canonical Allele Identifier: CA378371776

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112337222T>C (hg19) ; chr10:g.110577464T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577464T>C , CM000672.2:g.110577464T>C	GRCh38
NC_000010.10:g.112337222T>C , CM000672.1:g.112337222T>C	GRCh37
NC_000010.9:g.112327212T>C	NCBI36
NG_012217.1:g.14774T>C , LRG_774:g.14774T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.375T>C
ENST00000687823.1:n.156T>C
ENST00000689932.1:n.2305T>C
ENST00000691297.1:n.375T>C
ENST00000691527.1:n.332T>C
ENST00000692792.1:n.361T>C
ENST00000361804.5:c.242T>C MANE Select	ENSP00000354720.5:p.Ile81Thr
ENST00000361804.4:c.242T>C	ENSP00000354720.4:p.Ile81Thr
ENST00000462899.1:n.388T>C
NM_005445.3:c.242T>C , LRG_774t1:c.242T>C	NP_005436.1:p.Ile81Thr
NM_005445.4:c.242T>C MANE Select	NP_005436.1:p.Ile81Thr