Canonical Allele Identifier: CA378372120

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112337248C>G (hg19) ; chr10:g.110577490C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577490C>G , CM000672.2:g.110577490C>G	GRCh38
NC_000010.10:g.112337248C>G , CM000672.1:g.112337248C>G	GRCh37
NC_000010.9:g.112327238C>G	NCBI36
NG_012217.1:g.14800C>G , LRG_774:g.14800C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.401C>G
ENST00000687823.1:n.182C>G
ENST00000689932.1:n.2331C>G
ENST00000691297.1:n.401C>G
ENST00000691527.1:n.358C>G
ENST00000692792.1:n.387C>G
ENST00000361804.5:c.268C>G MANE Select	ENSP00000354720.5:p.Pro90Ala
ENST00000361804.4:c.268C>G	ENSP00000354720.4:p.Pro90Ala
ENST00000462899.1:n.414C>G
NM_005445.3:c.268C>G , LRG_774t1:c.268C>G	NP_005436.1:p.Pro90Ala
NM_005445.4:c.268C>G MANE Select	NP_005436.1:p.Pro90Ala