Canonical Allele Identifier: CA4354528

Gene: ASNS

Linked Data

• ClinVar Variation Id: 1088577
• ClinVar RCV Id: RCV001407110
• dbSNP Id: rs377478177
• ExAC: 7:97482609 T / A
• gnomAD v2: 7-97482609-T-A
• gnomAD v3: 7-97853297-T-A
• gnomAD v4: 7-97853297-T-A
• MyVariant Identifiers: chr7:g.97482609T>A (hg19) ; chr7:g.97853297T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97853297T>A , CM000669.2:g.97853297T>A	GRCh38
NC_000007.13:g.97482609T>A , CM000669.1:g.97482609T>A	GRCh37
NC_000007.12:g.97320545T>A	NCBI36
NG_033870.1:g.24246A>T
NG_033870.2:g.80266A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394308.8:c.1320+8A>T MANE Select	ENSP00000377845.3:n.1320+8A>T
ENST00000175506.8:c.1320+8A>T	ENSP00000175506.4:n.1320+8A>T
ENST00000394308.7:c.1320+8A>T	ENSP00000377845.3:n.1320+8A>T
ENST00000394309.7:c.1320+8A>T	ENSP00000377846.3:n.1320+8A>T
ENST00000422745.5:c.1257+8A>T	ENSP00000414901.1:n.1257+8A>T
ENST00000437628.5:c.1071+8A>T	ENSP00000414379.1:n.1071+8A>T
ENST00000444334.5:c.1257+8A>T	ENSP00000406994.1:n.1257+8A>T
ENST00000454046.5:c.*188+8A>T	ENSP00000401651.1:n.*188+8A>T
ENST00000455086.5:c.1071+8A>T	ENSP00000408472.1:n.1071+8A>T
ENST00000487714.1:n.378+8A>T
NM_001178075.1:c.1257+8A>T	NP_001171546.1:n.1257+8A>T
NM_001178076.1:c.1071+8A>T	NP_001171547.1:n.1071+8A>T
NM_001178077.1:c.1071+8A>T	NP_001171548.1:n.1071+8A>T
NM_001673.4:c.1320+8A>T	NP_001664.3:n.1320+8A>T
NM_133436.3:c.1320+8A>T	NP_597680.2:n.1320+8A>T
NM_183356.3:c.1320+8A>T	NP_899199.2:n.1320+8A>T
NM_001352496.1:c.1320+8A>T	NP_001339425.1:n.1320+8A>T
NR_147989.1:n.3023+8A>T
NM_001673.5:c.1320+8A>T MANE Select	NP_001664.3:n.1320+8A>T
NM_001178075.2:c.1257+8A>T	NP_001171546.1:n.1257+8A>T
NM_001178076.2:c.1071+8A>T	NP_001171547.1:n.1071+8A>T
NM_001352496.2:c.1320+8A>T	NP_001339425.1:n.1320+8A>T
NM_183356.4:c.1320+8A>T	NP_899199.2:n.1320+8A>T