Canonical Allele Identifier: CA378371996

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112337241C>G (hg19) ; chr10:g.110577483C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577483C>G , CM000672.2:g.110577483C>G	GRCh38
NC_000010.10:g.112337241C>G , CM000672.1:g.112337241C>G	GRCh37
NC_000010.9:g.112327231C>G	NCBI36
NG_012217.1:g.14793C>G , LRG_774:g.14793C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.394C>G
ENST00000687823.1:n.175C>G
ENST00000689932.1:n.2324C>G
ENST00000691297.1:n.394C>G
ENST00000691527.1:n.351C>G
ENST00000692792.1:n.380C>G
ENST00000361804.5:c.261C>G MANE Select	ENSP00000354720.5:p.Asn87Lys
ENST00000361804.4:c.261C>G	ENSP00000354720.4:p.Asn87Lys
ENST00000462899.1:n.407C>G
NM_005445.3:c.261C>G , LRG_774t1:c.261C>G	NP_005436.1:p.Asn87Lys
NM_005445.4:c.261C>G MANE Select	NP_005436.1:p.Asn87Lys