Canonical Allele Identifier: CA2683842873
Gene: ASNS HGNC NCBI

Linked Data

gnomAD v4: 7-97853294-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97853294G>A , CM000669.2:g.97853294G>A GRCh38
NC_000007.13:g.97482606G>A , CM000669.1:g.97482606G>A GRCh37
NC_000007.12:g.97320542G>A NCBI36
NG_033870.1:g.24249C>T
NG_033870.2:g.80269C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394308.8:c.1320+11C>T MANE Select ENSP00000377845.3:n.1320+11C>T
ENST00000175506.8:c.1320+11C>T ENSP00000175506.4:n.1320+11C>T
ENST00000394308.7:c.1320+11C>T ENSP00000377845.3:n.1320+11C>T
ENST00000394309.7:c.1320+11C>T ENSP00000377846.3:n.1320+11C>T
ENST00000422745.5:c.1257+11C>T ENSP00000414901.1:n.1257+11C>T
ENST00000437628.5:c.1071+11C>T ENSP00000414379.1:n.1071+11C>T
ENST00000444334.5:c.1257+11C>T ENSP00000406994.1:n.1257+11C>T
ENST00000454046.5:c.*188+11C>T ENSP00000401651.1:n.*188+11C>T
ENST00000455086.5:c.1071+11C>T ENSP00000408472.1:n.1071+11C>T
ENST00000487714.1:n.378+11C>T
NM_001178075.1:c.1257+11C>T NP_001171546.1:n.1257+11C>T
NM_001178076.1:c.1071+11C>T NP_001171547.1:n.1071+11C>T
NM_001178077.1:c.1071+11C>T NP_001171548.1:n.1071+11C>T
NM_001673.4:c.1320+11C>T NP_001664.3:n.1320+11C>T
NM_133436.3:c.1320+11C>T NP_597680.2:n.1320+11C>T
NM_183356.3:c.1320+11C>T NP_899199.2:n.1320+11C>T
NM_001352496.1:c.1320+11C>T NP_001339425.1:n.1320+11C>T
NR_147989.1:n.3023+11C>T
NM_001673.5:c.1320+11C>T MANE Select NP_001664.3:n.1320+11C>T
NM_001178075.2:c.1257+11C>T NP_001171546.1:n.1257+11C>T
NM_001178076.2:c.1071+11C>T NP_001171547.1:n.1071+11C>T
NM_001352496.2:c.1320+11C>T NP_001339425.1:n.1320+11C>T
NM_183356.4:c.1320+11C>T NP_899199.2:n.1320+11C>T