Canonical Allele Identifier: CA378373741
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110578645A>T , CM000672.2:g.110578645A>T GRCh38
NC_000010.10:g.112338403A>T , CM000672.1:g.112338403A>T GRCh37
NC_000010.9:g.112328393A>T NCBI36
NG_012217.1:g.15955A>T , LRG_774:g.15955A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.501A>T
ENST00000687823.1:n.282A>T
ENST00000689932.1:n.2431A>T
ENST00000691297.1:n.501A>T
ENST00000691527.1:n.1171A>T
ENST00000692792.1:n.487A>T
ENST00000361804.5:c.368A>T MANE Select ENSP00000354720.5:p.Asn123Ile
ENST00000361804.4:c.368A>T ENSP00000354720.4:p.Asn123Ile
ENST00000462899.1:n.514A>T
NM_005445.3:c.368A>T , LRG_774t1:c.368A>T NP_005436.1:p.Asn123Ile
NM_005445.4:c.368A>T MANE Select NP_005436.1:p.Asn123Ile