Canonical Allele Identifier: CA471370385
Gene: SMC3 HGNC NCBI

Linked Data

dbSNP Id: rs1369566087
gnomAD v2: 10-112338443-T-C
gnomAD v3: 10-110578685-T-C
gnomAD v4: 10-110578685-T-C
MyVariant Identifiers: chr10:g.112338443T>C (hg19) chr10:g.110578685T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110578685T>C , CM000672.2:g.110578685T>C GRCh38
NC_000010.10:g.112338443T>C , CM000672.1:g.112338443T>C GRCh37
NC_000010.9:g.112328433T>C NCBI36
NG_012217.1:g.15995T>C , LRG_774:g.15995T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.541T>C
ENST00000687823.1:n.322T>C
ENST00000689932.1:n.2471T>C
ENST00000691297.1:n.541T>C
ENST00000691527.1:n.1211T>C
ENST00000692792.1:n.527T>C
ENST00000361804.5:c.408T>C MANE Select ENSP00000354720.5:p.Tyr136=
ENST00000361804.4:c.408T>C ENSP00000354720.4:p.Tyr136=
ENST00000462899.1:n.554T>C
NM_005445.3:c.408T>C , LRG_774t1:c.408T>C NP_005436.1:p.Tyr136=
NM_005445.4:c.408T>C MANE Select NP_005436.1:p.Tyr136=
Search 100 bp 5'
Search 100 bp 3'