Canonical Allele Identifier: CA378394425

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112361917T>C (hg19) ; chr10:g.110602159T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602159T>C , CM000672.2:g.110602159T>C	GRCh38
NC_000010.10:g.112361917T>C , CM000672.1:g.112361917T>C	GRCh37
NC_000010.9:g.112351907T>C	NCBI36
NG_012217.1:g.39469T>C , LRG_774:g.39469T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5319T>C
ENST00000685743.1:n.2794T>C
ENST00000686057.1:n.1437T>C
ENST00000689321.1:n.2049T>C
ENST00000689986.1:n.875T>C
ENST00000361804.5:c.3086T>C MANE Select	ENSP00000354720.5:p.Ile1029Thr
ENST00000361804.4:c.3086T>C	ENSP00000354720.4:p.Ile1029Thr
NM_005445.3:c.3086T>C , LRG_774t1:c.3086T>C	NP_005436.1:p.Ile1029Thr
NM_005445.4:c.3086T>C MANE Select	NP_005436.1:p.Ile1029Thr