Canonical Allele Identifier: CA378372104

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112337248C>A (hg19) ; chr10:g.110577490C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577490C>A , CM000672.2:g.110577490C>A	GRCh38
NC_000010.10:g.112337248C>A , CM000672.1:g.112337248C>A	GRCh37
NC_000010.9:g.112327238C>A	NCBI36
NG_012217.1:g.14800C>A , LRG_774:g.14800C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.401C>A
ENST00000687823.1:n.182C>A
ENST00000689932.1:n.2331C>A
ENST00000691297.1:n.401C>A
ENST00000691527.1:n.358C>A
ENST00000692792.1:n.387C>A
ENST00000361804.5:c.268C>A MANE Select	ENSP00000354720.5:p.Pro90Thr
ENST00000361804.4:c.268C>A	ENSP00000354720.4:p.Pro90Thr
ENST00000462899.1:n.414C>A
NM_005445.3:c.268C>A , LRG_774t1:c.268C>A	NP_005436.1:p.Pro90Thr
NM_005445.4:c.268C>A MANE Select	NP_005436.1:p.Pro90Thr