Canonical Allele Identifier: CA209491

Gene: ASNS

Linked Data

• ClinVar Variation Id: 210338
• ClinVar RCV Id: RCV000194969 ; RCV001857687
• dbSNP Id: rs797045306
• gnomAD v4: 7-97864333-T-A
• MyVariant Identifiers: chr7:g.97493645T>A (hg19) ; chr7:g.97864333T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97864333T>A , CM000669.2:g.97864333T>A	GRCh38
NC_000007.13:g.97493645T>A , CM000669.1:g.97493645T>A	GRCh37
NC_000007.12:g.97331581T>A	NCBI36
NG_033870.1:g.13210A>T
NG_033870.2:g.69230A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394308.8:c.413A>T MANE Select	ENSP00000377845.3:p.Asp138Val
ENST00000175506.8:c.413A>T	ENSP00000175506.4:p.Asp138Val
ENST00000394308.7:c.413A>T	ENSP00000377845.3:p.Asp138Val
ENST00000394309.7:c.413A>T	ENSP00000377846.3:p.Asp138Val
ENST00000422745.5:c.350A>T	ENSP00000414901.1:p.Asp117Val
ENST00000437628.5:c.164A>T	ENSP00000414379.1:p.Asp55Val
ENST00000437657.5:c.413A>T	ENSP00000394242.1:p.Asp138Val
ENST00000442734.5:c.413A>T	ENSP00000400422.1:p.Asp138Val
ENST00000444334.5:c.350A>T	ENSP00000406994.1:p.Asp117Val
ENST00000454046.5:c.413A>T	ENSP00000401651.1:p.Asp138Val
ENST00000455086.5:c.164A>T	ENSP00000408472.1:p.Asp55Val
ENST00000495255.1:n.441A>T
NM_001178075.1:c.350A>T	NP_001171546.1:p.Asp117Val
NM_001178076.1:c.164A>T	NP_001171547.1:p.Asp55Val
NM_001178077.1:c.164A>T	NP_001171548.1:p.Asp55Val
NM_001673.4:c.413A>T	NP_001664.3:p.Asp138Val
NM_133436.3:c.413A>T	NP_597680.2:p.Asp138Val
NM_183356.3:c.413A>T	NP_899199.2:p.Asp138Val
NM_001352496.1:c.413A>T	NP_001339425.1:p.Asp138Val
NR_147989.1:n.2042A>T
NM_001673.5:c.413A>T MANE Select	NP_001664.3:p.Asp138Val
NM_001178075.2:c.350A>T	NP_001171546.1:p.Asp117Val
NM_001178076.2:c.164A>T	NP_001171547.1:p.Asp55Val
NM_001352496.2:c.413A>T	NP_001339425.1:p.Asp138Val
NM_183356.4:c.413A>T	NP_899199.2:p.Asp138Val