Canonical Allele Identifier: CA932510153

Gene: SMC3

Linked Data

• dbSNP Id: rs1860902194
• gnomAD v3: 10-110573468-C-T
• gnomAD v4: 10-110573468-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573468C>T , CM000672.2:g.110573468C>T	GRCh38
NC_000010.10:g.112333226C>T , CM000672.1:g.112333226C>T	GRCh37
NC_000010.9:g.112323216C>T	NCBI36
NG_012217.1:g.10778C>T , LRG_774:g.10778C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.225-239C>T
ENST00000687823.1:n.45-1868C>T
ENST00000689932.1:n.326C>T
ENST00000691297.1:n.225-239C>T
ENST00000691527.1:n.182-239C>T
ENST00000692792.1:n.211-239C>T
ENST00000361804.5:c.92-239C>T MANE Select	ENSP00000354720.5:n.92-239C>T
ENST00000361804.4:c.92-239C>T	ENSP00000354720.4:n.92-239C>T
ENST00000462899.1:n.238-239C>T
NM_005445.3:c.92-239C>T , LRG_774t1:c.92-239C>T	NP_005436.1:n.92-239C>T
NM_005445.4:c.92-239C>T MANE Select	NP_005436.1:n.92-239C>T