Canonical Allele Identifier: CA213249460
Gene: SMC3 HGNC NCBI

Linked Data

dbSNP Id: rs890250131
gnomAD v3: 10-110602052-C-T
gnomAD v4: 10-110602052-C-T
MyVariant Identifiers: chr10:g.112361810C>T (hg19) chr10:g.110602052C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110602052C>T , CM000672.2:g.110602052C>T GRCh38
NC_000010.10:g.112361810C>T , CM000672.1:g.112361810C>T GRCh37
NC_000010.9:g.112351800C>T NCBI36
NG_012217.1:g.39362C>T , LRG_774:g.39362C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5212C>T
ENST00000685743.1:n.2687C>T
ENST00000686057.1:n.1330C>T
ENST00000689321.1:n.1942C>T
ENST00000689986.1:n.768C>T
ENST00000361804.5:c.2979C>T MANE Select ENSP00000354720.5:p.Phe993=
ENST00000361804.4:c.2979C>T ENSP00000354720.4:p.Phe993=
NM_005445.3:c.2979C>T , LRG_774t1:c.2979C>T NP_005436.1:p.Phe993=
NM_005445.4:c.2979C>T MANE Select NP_005436.1:p.Phe993=
Search 100 bp 5'
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