Canonical Allele Identifier: CA213228806

Gene: SMC3

Linked Data

• dbSNP Id: rs1038661387
• gnomAD v2: 10-112338333-T-C
• gnomAD v3: 10-110578575-T-C
• gnomAD v4: 10-110578575-T-C
• MyVariant Identifiers: chr10:g.112338333T>C (hg19) ; chr10:g.110578575T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578575T>C , CM000672.2:g.110578575T>C	GRCh38
NC_000010.10:g.112338333T>C , CM000672.1:g.112338333T>C	GRCh37
NC_000010.9:g.112328323T>C	NCBI36
NG_012217.1:g.15885T>C , LRG_774:g.15885T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.484-53T>C
ENST00000687823.1:n.265-53T>C
ENST00000689932.1:n.2414-53T>C
ENST00000691297.1:n.484-53T>C
ENST00000691527.1:n.1101T>C
ENST00000692792.1:n.470-53T>C
ENST00000361804.5:c.351-53T>C MANE Select	ENSP00000354720.5:n.351-53T>C
ENST00000361804.4:c.351-53T>C	ENSP00000354720.4:n.351-53T>C
ENST00000462899.1:n.497-53T>C
NM_005445.3:c.351-53T>C , LRG_774t1:c.351-53T>C	NP_005436.1:n.351-53T>C
NM_005445.4:c.351-53T>C MANE Select	NP_005436.1:n.351-53T>C