Canonical Allele Identifier: CA378374083

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112338450G>T (hg19) ; chr10:g.110578692G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578692G>T , CM000672.2:g.110578692G>T	GRCh38
NC_000010.10:g.112338450G>T , CM000672.1:g.112338450G>T	GRCh37
NC_000010.9:g.112328440G>T	NCBI36
NG_012217.1:g.16002G>T , LRG_774:g.16002G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.548G>T
ENST00000687823.1:n.329G>T
ENST00000689932.1:n.2478G>T
ENST00000691297.1:n.548G>T
ENST00000691527.1:n.1218G>T
ENST00000692792.1:n.534G>T
ENST00000361804.5:c.415G>T MANE Select	ENSP00000354720.5:p.Val139Phe
ENST00000361804.4:c.415G>T	ENSP00000354720.4:p.Val139Phe
ENST00000462899.1:n.561G>T
NM_005445.3:c.415G>T , LRG_774t1:c.415G>T	NP_005436.1:p.Val139Phe
NM_005445.4:c.415G>T MANE Select	NP_005436.1:p.Val139Phe