Canonical Allele Identifier: CA378371931

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112337237A>T (hg19) ; chr10:g.110577479A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577479A>T , CM000672.2:g.110577479A>T	GRCh38
NC_000010.10:g.112337237A>T , CM000672.1:g.112337237A>T	GRCh37
NC_000010.9:g.112327227A>T	NCBI36
NG_012217.1:g.14789A>T , LRG_774:g.14789A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.390A>T
ENST00000687823.1:n.171A>T
ENST00000689932.1:n.2320A>T
ENST00000691297.1:n.390A>T
ENST00000691527.1:n.347A>T
ENST00000692792.1:n.376A>T
ENST00000361804.5:c.257A>T MANE Select	ENSP00000354720.5:p.Asp86Val
ENST00000361804.4:c.257A>T	ENSP00000354720.4:p.Asp86Val
ENST00000462899.1:n.403A>T
NM_005445.3:c.257A>T , LRG_774t1:c.257A>T	NP_005436.1:p.Asp86Val
NM_005445.4:c.257A>T MANE Select	NP_005436.1:p.Asp86Val