Canonical Allele Identifier: CA213228881

Gene: SMC3

Linked Data

• ClinVar Variation Id: 1630286
• ClinVar RCV Id: RCV002121072
• dbSNP Id: rs972620847
• gnomAD v2: 10-112338407-C-T
• gnomAD v3: 10-110578649-C-T
• gnomAD v4: 10-110578649-C-T
• MyVariant Identifiers: chr10:g.112338407C>T (hg19) ; chr10:g.110578649C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578649C>T , CM000672.2:g.110578649C>T	GRCh38
NC_000010.10:g.112338407C>T , CM000672.1:g.112338407C>T	GRCh37
NC_000010.9:g.112328397C>T	NCBI36
NG_012217.1:g.15959C>T , LRG_774:g.15959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.505C>T
ENST00000687823.1:n.286C>T
ENST00000689932.1:n.2435C>T
ENST00000691297.1:n.505C>T
ENST00000691527.1:n.1175C>T
ENST00000692792.1:n.491C>T
ENST00000361804.5:c.372C>T MANE Select	ENSP00000354720.5:p.Leu124=
ENST00000361804.4:c.372C>T	ENSP00000354720.4:p.Leu124=
ENST00000462899.1:n.518C>T
NM_005445.3:c.372C>T , LRG_774t1:c.372C>T	NP_005436.1:p.Leu124=
NM_005445.4:c.372C>T MANE Select	NP_005436.1:p.Leu124=