Canonical Allele Identifier: CA471506147
Gene: SMC3 HGNC NCBI

Linked Data

gnomAD v4: 10-110602004-G-A
MyVariant Identifiers: chr10:g.112361762G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110602004G>A , CM000672.2:g.110602004G>A GRCh38
NC_000010.10:g.112361762G>A , CM000672.1:g.112361762G>A GRCh37
NC_000010.9:g.112351752G>A NCBI36
NG_012217.1:g.39314G>A , LRG_774:g.39314G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5164G>A
ENST00000685743.1:n.2639G>A
ENST00000686057.1:n.1282G>A
ENST00000689321.1:n.1894G>A
ENST00000689986.1:n.720G>A
ENST00000361804.5:c.2931G>A MANE Select ENSP00000354720.5:p.Lys977=
ENST00000361804.4:c.2931G>A ENSP00000354720.4:p.Lys977=
NM_005445.3:c.2931G>A , LRG_774t1:c.2931G>A NP_005436.1:p.Lys977=
NM_005445.4:c.2931G>A MANE Select NP_005436.1:p.Lys977=
Search 100 bp 5'
Search 100 bp 3'