Canonical Allele Identifier: CA378387593

Gene: SMC3

Linked Data

• gnomAD v4: 10-110589898-G-T
• MyVariant Identifiers: chr10:g.112349656G>T (hg19) ; chr10:g.110589898G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589898G>T , CM000672.2:g.110589898G>T	GRCh38
NC_000010.10:g.112349656G>T , CM000672.1:g.112349656G>T	GRCh37
NC_000010.9:g.112339646G>T	NCBI36
NG_012217.1:g.27208G>T , LRG_774:g.27208G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1316G>T
ENST00000684988.1:n.2061G>T
ENST00000687823.1:n.1330G>T
ENST00000689932.1:n.3479G>T
ENST00000691297.1:n.1549G>T
ENST00000691527.1:n.2219G>T
ENST00000692792.1:n.1535G>T
ENST00000361804.5:c.1416G>T MANE Select	ENSP00000354720.5:p.Leu472Phe
ENST00000361804.4:c.1416G>T	ENSP00000354720.4:p.Leu472Phe
NM_005445.3:c.1416G>T , LRG_774t1:c.1416G>T	NP_005436.1:p.Leu472Phe
NM_005445.4:c.1416G>T MANE Select	NP_005436.1:p.Leu472Phe