Canonical Allele Identifier: CA378373830

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112338415G>T (hg19) ; chr10:g.110578657G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578657G>T , CM000672.2:g.110578657G>T	GRCh38
NC_000010.10:g.112338415G>T , CM000672.1:g.112338415G>T	GRCh37
NC_000010.9:g.112328405G>T	NCBI36
NG_012217.1:g.15967G>T , LRG_774:g.15967G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.513G>T
ENST00000687823.1:n.294G>T
ENST00000689932.1:n.2443G>T
ENST00000691297.1:n.513G>T
ENST00000691527.1:n.1183G>T
ENST00000692792.1:n.499G>T
ENST00000361804.5:c.380G>T MANE Select	ENSP00000354720.5:p.Ser127Ile
ENST00000361804.4:c.380G>T	ENSP00000354720.4:p.Ser127Ile
ENST00000462899.1:n.526G>T
NM_005445.3:c.380G>T , LRG_774t1:c.380G>T	NP_005436.1:p.Ser127Ile
NM_005445.4:c.380G>T MANE Select	NP_005436.1:p.Ser127Ile