Canonical Allele Identifier: CA378388019

Gene: SMC3

Linked Data

• gnomAD v4: 10-110589951-T-C
• MyVariant Identifiers: chr10:g.112349709T>C (hg19) ; chr10:g.110589951T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589951T>C , CM000672.2:g.110589951T>C	GRCh38
NC_000010.10:g.112349709T>C , CM000672.1:g.112349709T>C	GRCh37
NC_000010.9:g.112339699T>C	NCBI36
NG_012217.1:g.27261T>C , LRG_774:g.27261T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1369T>C
ENST00000684988.1:n.2114T>C
ENST00000687823.1:n.1383T>C
ENST00000689932.1:n.3532T>C
ENST00000691297.1:n.1602T>C
ENST00000691527.1:n.2272T>C
ENST00000692792.1:n.1588T>C
ENST00000361804.5:c.1469T>C MANE Select	ENSP00000354720.5:p.Leu490Pro
ENST00000361804.4:c.1469T>C	ENSP00000354720.4:p.Leu490Pro
NM_005445.3:c.1469T>C , LRG_774t1:c.1469T>C	NP_005436.1:p.Leu490Pro
NM_005445.4:c.1469T>C MANE Select	NP_005436.1:p.Leu490Pro