Canonical Allele Identifier: CA471506064
Gene: SMC3 HGNC NCBI

Linked Data

gnomAD v4: 10-110601839-T-G
MyVariant Identifiers: chr10:g.112361597T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601839T>G , CM000672.2:g.110601839T>G GRCh38
NC_000010.10:g.112361597T>G , CM000672.1:g.112361597T>G GRCh37
NC_000010.9:g.112351587T>G NCBI36
NG_012217.1:g.39149T>G , LRG_774:g.39149T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5080T>G
ENST00000685743.1:n.2555T>G
ENST00000686057.1:n.1198T>G
ENST00000689321.1:n.1810T>G
ENST00000689986.1:n.636T>G
ENST00000361804.5:c.2847T>G MANE Select ENSP00000354720.5:p.Leu949=
ENST00000361804.4:c.2847T>G ENSP00000354720.4:p.Leu949=
NM_005445.3:c.2847T>G , LRG_774t1:c.2847T>G NP_005436.1:p.Leu949=
NM_005445.4:c.2847T>G MANE Select NP_005436.1:p.Leu949=
Search 100 bp 5'
Search 100 bp 3'