Canonical Allele Identifier: CA213225417

Gene: SMC3

Linked Data

• dbSNP Id: rs991116922
• gnomAD v3: 10-110573461-G-T
• gnomAD v4: 10-110573461-G-T
• MyVariant Identifiers: chr10:g.112333219G>T (hg19) ; chr10:g.110573461G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573461G>T , CM000672.2:g.110573461G>T	GRCh38
NC_000010.10:g.112333219G>T , CM000672.1:g.112333219G>T	GRCh37
NC_000010.9:g.112323209G>T	NCBI36
NG_012217.1:g.10771G>T , LRG_774:g.10771G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.225-246G>T
ENST00000687823.1:n.45-1875G>T
ENST00000689932.1:n.319G>T
ENST00000691297.1:n.225-246G>T
ENST00000691527.1:n.182-246G>T
ENST00000692792.1:n.211-246G>T
ENST00000361804.5:c.92-246G>T MANE Select	ENSP00000354720.5:n.92-246G>T
ENST00000361804.4:c.92-246G>T	ENSP00000354720.4:n.92-246G>T
ENST00000462899.1:n.238-246G>T
NM_005445.3:c.92-246G>T , LRG_774t1:c.92-246G>T	NP_005436.1:n.92-246G>T
NM_005445.4:c.92-246G>T MANE Select	NP_005436.1:n.92-246G>T