Canonical Allele Identifier: CA2610884131

Gene: SMC3

Linked Data

• gnomAD v4: 10-110578773-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578773G>T , CM000672.2:g.110578773G>T	GRCh38
NC_000010.10:g.112338531G>T , CM000672.1:g.112338531G>T	GRCh37
NC_000010.9:g.112328521G>T	NCBI36
NG_012217.1:g.16083G>T , LRG_774:g.16083G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.562+67G>T
ENST00000687823.1:n.343+67G>T
ENST00000689932.1:n.2492+67G>T
ENST00000691297.1:n.562+67G>T
ENST00000691527.1:n.1232+67G>T
ENST00000692792.1:n.548+67G>T
ENST00000361804.5:c.429+67G>T MANE Select	ENSP00000354720.5:n.429+67G>T
ENST00000361804.4:c.429+67G>T	ENSP00000354720.4:n.429+67G>T
ENST00000462899.1:n.575+67G>T
NM_005445.3:c.429+67G>T , LRG_774t1:c.429+67G>T	NP_005436.1:n.429+67G>T
NM_005445.4:c.429+67G>T MANE Select	NP_005436.1:n.429+67G>T