Canonical Allele Identifier: CA5688324
Gene: SMC3 HGNC NCBI

Linked Data

dbSNP Id: rs527241824
ExAC: 10:112361891 A / T
gnomAD v2: 10-112361891-A-T
gnomAD v3: 10-110602133-A-T
gnomAD v4: 10-110602133-A-T
MyVariant Identifiers: chr10:g.112361891A>T (hg19) chr10:g.110602133A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110602133A>T , CM000672.2:g.110602133A>T GRCh38
NC_000010.10:g.112361891A>T , CM000672.1:g.112361891A>T GRCh37
NC_000010.9:g.112351881A>T NCBI36
NG_012217.1:g.39443A>T , LRG_774:g.39443A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5293A>T
ENST00000685743.1:n.2768A>T
ENST00000686057.1:n.1411A>T
ENST00000689321.1:n.2023A>T
ENST00000689986.1:n.849A>T
ENST00000361804.5:c.3060A>T MANE Select ENSP00000354720.5:p.Val1020=
ENST00000361804.4:c.3060A>T ENSP00000354720.4:p.Val1020=
NM_005445.3:c.3060A>T , LRG_774t1:c.3060A>T NP_005436.1:p.Val1020=
NM_005445.4:c.3060A>T MANE Select NP_005436.1:p.Val1020=
Search 100 bp 5'
Search 100 bp 3'