Canonical Allele Identifier: CA368265252
Gene: ASNS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97853363A>C , CM000669.2:g.97853363A>C GRCh38
NC_000007.13:g.97482675A>C , CM000669.1:g.97482675A>C GRCh37
NC_000007.12:g.97320611A>C NCBI36
NG_033870.1:g.24180T>G
NG_033870.2:g.80200T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000394308.8:c.1262T>G MANE Select ENSP00000377845.3:p.Leu421Arg
ENST00000175506.8:c.1262T>G ENSP00000175506.4:p.Leu421Arg
ENST00000394308.7:c.1262T>G ENSP00000377845.3:p.Leu421Arg
ENST00000394309.7:c.1262T>G ENSP00000377846.3:p.Leu421Arg
ENST00000422745.5:c.1199T>G ENSP00000414901.1:p.Leu400Arg
ENST00000437628.5:c.1013T>G ENSP00000414379.1:p.Leu338Arg
ENST00000444334.5:c.1199T>G ENSP00000406994.1:p.Leu400Arg
ENST00000454046.5:c.*130T>G ENSP00000401651.1:n.*130T>G
ENST00000455086.5:c.1013T>G ENSP00000408472.1:p.Leu338Arg
ENST00000487714.1:n.320T>G
NM_001178075.1:c.1199T>G NP_001171546.1:p.Leu400Arg
NM_001178076.1:c.1013T>G NP_001171547.1:p.Leu338Arg
NM_001178077.1:c.1013T>G NP_001171548.1:p.Leu338Arg
NM_001673.4:c.1262T>G NP_001664.3:p.Leu421Arg
NM_133436.3:c.1262T>G NP_597680.2:p.Leu421Arg
NM_183356.3:c.1262T>G NP_899199.2:p.Leu421Arg
NM_001352496.1:c.1262T>G NP_001339425.1:p.Leu421Arg
NR_147989.1:n.2965T>G
NM_001673.5:c.1262T>G MANE Select NP_001664.3:p.Leu421Arg
NM_001178075.2:c.1199T>G NP_001171546.1:p.Leu400Arg
NM_001178076.2:c.1013T>G NP_001171547.1:p.Leu338Arg
NM_001352496.2:c.1262T>G NP_001339425.1:p.Leu421Arg
NM_183356.4:c.1262T>G NP_899199.2:p.Leu421Arg