Canonical Allele Identifier: CA595712353

Gene: SMC3

Linked Data

• dbSNP Id: rs1312416424
• gnomAD v2: 10-112337166-C-A
• MyVariant Identifiers: chr10:g.112337166C>A (hg19) ; chr10:g.110577408C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577408C>A , CM000672.2:g.110577408C>A	GRCh38
NC_000010.10:g.112337166C>A , CM000672.1:g.112337166C>A	GRCh37
NC_000010.9:g.112327156C>A	NCBI36
NG_012217.1:g.14718C>A , LRG_774:g.14718C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.332-13C>A
ENST00000687823.1:n.113-13C>A
ENST00000689932.1:n.2262-13C>A
ENST00000691297.1:n.332-13C>A
ENST00000691527.1:n.289-13C>A
ENST00000692792.1:n.318-13C>A
ENST00000361804.5:c.199-13C>A MANE Select	ENSP00000354720.5:n.199-13C>A
ENST00000361804.4:c.199-13C>A	ENSP00000354720.4:n.199-13C>A
ENST00000462899.1:n.345-13C>A
NM_005445.3:c.199-13C>A , LRG_774t1:c.199-13C>A	NP_005436.1:n.199-13C>A
NM_005445.4:c.199-13C>A MANE Select	NP_005436.1:n.199-13C>A