Canonical Allele Identifier: CA368265256
Gene: ASNS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97853364G>T , CM000669.2:g.97853364G>T GRCh38
NC_000007.13:g.97482676G>T , CM000669.1:g.97482676G>T GRCh37
NC_000007.12:g.97320612G>T NCBI36
NG_033870.1:g.24179C>A
NG_033870.2:g.80199C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394308.8:c.1261C>A MANE Select ENSP00000377845.3:p.Leu421Ile
ENST00000175506.8:c.1261C>A ENSP00000175506.4:p.Leu421Ile
ENST00000394308.7:c.1261C>A ENSP00000377845.3:p.Leu421Ile
ENST00000394309.7:c.1261C>A ENSP00000377846.3:p.Leu421Ile
ENST00000422745.5:c.1198C>A ENSP00000414901.1:p.Leu400Ile
ENST00000437628.5:c.1012C>A ENSP00000414379.1:p.Leu338Ile
ENST00000444334.5:c.1198C>A ENSP00000406994.1:p.Leu400Ile
ENST00000454046.5:c.*129C>A ENSP00000401651.1:n.*129C>A
ENST00000455086.5:c.1012C>A ENSP00000408472.1:p.Leu338Ile
ENST00000487714.1:n.319C>A
NM_001178075.1:c.1198C>A NP_001171546.1:p.Leu400Ile
NM_001178076.1:c.1012C>A NP_001171547.1:p.Leu338Ile
NM_001178077.1:c.1012C>A NP_001171548.1:p.Leu338Ile
NM_001673.4:c.1261C>A NP_001664.3:p.Leu421Ile
NM_133436.3:c.1261C>A NP_597680.2:p.Leu421Ile
NM_183356.3:c.1261C>A NP_899199.2:p.Leu421Ile
NM_001352496.1:c.1261C>A NP_001339425.1:p.Leu421Ile
NR_147989.1:n.2964C>A
NM_001673.5:c.1261C>A MANE Select NP_001664.3:p.Leu421Ile
NM_001178075.2:c.1198C>A NP_001171546.1:p.Leu400Ile
NM_001178076.2:c.1012C>A NP_001171547.1:p.Leu338Ile
NM_001352496.2:c.1261C>A NP_001339425.1:p.Leu421Ile
NM_183356.4:c.1261C>A NP_899199.2:p.Leu421Ile