Canonical Allele Identifier: CA378370001

Gene: SMC3

Linked Data

• dbSNP Id: rs1860932595
• gnomAD v4: 10-110575385-G-T
• MyVariant Identifiers: chr10:g.112335143G>T (hg19) ; chr10:g.110575385G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110575385G>T , CM000672.2:g.110575385G>T	GRCh38
NC_000010.10:g.112335143G>T , CM000672.1:g.112335143G>T	GRCh37
NC_000010.9:g.112325133G>T	NCBI36
NG_012217.1:g.12695G>T , LRG_774:g.12695G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.313G>T
ENST00000687823.1:n.94G>T
ENST00000689932.1:n.2243G>T
ENST00000691297.1:n.313G>T
ENST00000691527.1:n.270G>T
ENST00000692792.1:n.299G>T
ENST00000361804.5:c.180G>T MANE Select	ENSP00000354720.5:p.Gln60His
ENST00000361804.4:c.180G>T	ENSP00000354720.4:p.Gln60His
ENST00000462899.1:n.326G>T
NM_005445.3:c.180G>T , LRG_774t1:c.180G>T	NP_005436.1:p.Gln60His
NM_005445.4:c.180G>T MANE Select	NP_005436.1:p.Gln60His