Canonical Allele Identifier: CA378394376

Gene: SMC3

Linked Data

• gnomAD v4: 10-110602137-G-T
• MyVariant Identifiers: chr10:g.112361895G>T (hg19) ; chr10:g.110602137G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602137G>T , CM000672.2:g.110602137G>T	GRCh38
NC_000010.10:g.112361895G>T , CM000672.1:g.112361895G>T	GRCh37
NC_000010.9:g.112351885G>T	NCBI36
NG_012217.1:g.39447G>T , LRG_774:g.39447G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5297G>T
ENST00000685743.1:n.2772G>T
ENST00000686057.1:n.1415G>T
ENST00000689321.1:n.2027G>T
ENST00000689986.1:n.853G>T
ENST00000361804.5:c.3064G>T MANE Select	ENSP00000354720.5:p.Glu1022Ter
ENST00000361804.4:c.3064G>T	ENSP00000354720.4:p.Glu1022Ter
NM_005445.3:c.3064G>T , LRG_774t1:c.3064G>T	NP_005436.1:p.Glu1022Ter
NM_005445.4:c.3064G>T MANE Select	NP_005436.1:p.Glu1022Ter