Canonical Allele Identifier: CA471371945

Gene: SMC3

Linked Data

• gnomAD v4: 10-110589952-T-C
• MyVariant Identifiers: chr10:g.112349710T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589952T>C , CM000672.2:g.110589952T>C	GRCh38
NC_000010.10:g.112349710T>C , CM000672.1:g.112349710T>C	GRCh37
NC_000010.9:g.112339700T>C	NCBI36
NG_012217.1:g.27262T>C , LRG_774:g.27262T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1370T>C
ENST00000684988.1:n.2115T>C
ENST00000687823.1:n.1384T>C
ENST00000689932.1:n.3533T>C
ENST00000691297.1:n.1603T>C
ENST00000691527.1:n.2273T>C
ENST00000692792.1:n.1589T>C
ENST00000361804.5:c.1470T>C MANE Select	ENSP00000354720.5:p.Leu490=
ENST00000361804.4:c.1470T>C	ENSP00000354720.4:p.Leu490=
NM_005445.3:c.1470T>C , LRG_774t1:c.1470T>C	NP_005436.1:p.Leu490=
NM_005445.4:c.1470T>C MANE Select	NP_005436.1:p.Leu490=