Canonical Allele Identifier: CA378393723

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112361548T>C (hg19) ; chr10:g.110601790T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601790T>C , CM000672.2:g.110601790T>C	GRCh38
NC_000010.10:g.112361548T>C , CM000672.1:g.112361548T>C	GRCh37
NC_000010.9:g.112351538T>C	NCBI36
NG_012217.1:g.39100T>C , LRG_774:g.39100T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5031T>C
ENST00000685743.1:n.2506T>C
ENST00000686057.1:n.1149T>C
ENST00000689321.1:n.1761T>C
ENST00000689986.1:n.587T>C
ENST00000361804.5:c.2798T>C MANE Select	ENSP00000354720.5:p.Leu933Ser
ENST00000361804.4:c.2798T>C	ENSP00000354720.4:p.Leu933Ser
NM_005445.3:c.2798T>C , LRG_774t1:c.2798T>C	NP_005436.1:p.Leu933Ser
NM_005445.4:c.2798T>C MANE Select	NP_005436.1:p.Leu933Ser