Canonical Allele Identifier: CA2739277881
Gene: ASNS HGNC NCBI

Linked Data

ClinVar Variation Id: 2817925
ClinVar RCV Id: RCV003720995

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97853286C>G , CM000669.2:g.97853286C>G GRCh38
NC_000007.13:g.97482598C>G , CM000669.1:g.97482598C>G GRCh37
NC_000007.12:g.97320534C>G NCBI36
NG_033870.1:g.24257G>C
NG_033870.2:g.80277G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394308.8:c.1320+19G>C MANE Select ENSP00000377845.3:n.1320+19G>C
ENST00000175506.8:c.1320+19G>C ENSP00000175506.4:n.1320+19G>C
ENST00000394308.7:c.1320+19G>C ENSP00000377845.3:n.1320+19G>C
ENST00000394309.7:c.1320+19G>C ENSP00000377846.3:n.1320+19G>C
ENST00000422745.5:c.1257+19G>C ENSP00000414901.1:n.1257+19G>C
ENST00000437628.5:c.1071+19G>C ENSP00000414379.1:n.1071+19G>C
ENST00000444334.5:c.1257+19G>C ENSP00000406994.1:n.1257+19G>C
ENST00000454046.5:c.*188+19G>C ENSP00000401651.1:n.*188+19G>C
ENST00000455086.5:c.1071+19G>C ENSP00000408472.1:n.1071+19G>C
ENST00000487714.1:n.378+19G>C
NM_001178075.1:c.1257+19G>C NP_001171546.1:n.1257+19G>C
NM_001178076.1:c.1071+19G>C NP_001171547.1:n.1071+19G>C
NM_001178077.1:c.1071+19G>C NP_001171548.1:n.1071+19G>C
NM_001673.4:c.1320+19G>C NP_001664.3:n.1320+19G>C
NM_133436.3:c.1320+19G>C NP_597680.2:n.1320+19G>C
NM_183356.3:c.1320+19G>C NP_899199.2:n.1320+19G>C
NM_001352496.1:c.1320+19G>C NP_001339425.1:n.1320+19G>C
NR_147989.1:n.3023+19G>C
NM_001673.5:c.1320+19G>C MANE Select NP_001664.3:n.1320+19G>C
NM_001178075.2:c.1257+19G>C NP_001171546.1:n.1257+19G>C
NM_001178076.2:c.1071+19G>C NP_001171547.1:n.1071+19G>C
NM_001352496.2:c.1320+19G>C NP_001339425.1:n.1320+19G>C
NM_183356.4:c.1320+19G>C NP_899199.2:n.1320+19G>C