Canonical Allele Identifier: CA375892427

Gene: NET1

Linked Data

• ClinVar Variation Id: 487790
• ClinVar RCV Id: RCV000577843
• dbSNP Id: rs1554818513
• MyVariant Identifiers: chr10:g.5494455G>T (hg19) ; chr10:g.5452492G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.5452492G>T , CM000672.2:g.5452492G>T	GRCh38
NC_000010.10:g.5494455G>T , CM000672.1:g.5494455G>T	GRCh37
NC_000010.9:g.5484455G>T	NCBI36
NG_050652.1:g.44942G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355029.9:c.498G>T MANE Select	ENSP00000347134.4:p.Glu166Asp
ENST00000355029.8:c.498G>T	ENSP00000347134.4:p.Glu166Asp
ENST00000380359.3:c.336G>T	ENSP00000369717.3:p.Glu112Asp
ENST00000449083.5:c.94-803G>T	ENSP00000403101.1:n.94-803G>T
ENST00000465087.1:n.74G>T
ENST00000486354.1:n.493G>T
NM_001047160.2:c.498G>T	NP_001040625.1:p.Glu166Asp
NM_005863.4:c.336G>T	NP_005854.2:p.Glu112Asp
NR_073040.1:n.551G>T
XM_024447755.1:c.-1701G>T	XP_024303523.1:n.-1701G>T
NM_001047160.3:c.498G>T MANE Select	NP_001040625.1:p.Glu166Asp
NM_005863.5:c.336G>T	NP_005854.2:p.Glu112Asp