Canonical Allele Identifier: CA16042617
Gene: ASNS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373307
ClinVar RCV Id: RCV000412830
dbSNP Id: rs1057518341

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97853346A>G , CM000669.2:g.97853346A>G GRCh38
NC_000007.13:g.97482658A>G , CM000669.1:g.97482658A>G GRCh37
NC_000007.12:g.97320594A>G NCBI36
NG_033870.1:g.24197T>C
NG_033870.2:g.80217T>C

Transcript Alleles

HGVS Amino-acid change
NM_001178075.1:c.1216T>C VV NP_001171546.1:p.Ser406Pro
NM_001178076.1:c.1030T>C VV NP_001171547.1:p.Ser344Pro
NM_001178077.1:c.1030T>C VV NP_001171548.1:p.Ser344Pro
NM_001673.4:c.1279T>C VV NP_001664.3:p.Ser427Pro
NM_133436.3:c.1279T>C VV NP_597680.2:p.Ser427Pro
NM_183356.3:c.1279T>C VV NP_899199.2:p.Ser427Pro
NM_001352496.1:c.1279T>C VV NP_001339425.1:p.Ser427Pro
NR_147989.1:n.2982T>C
NM_001673.5:c.1279T>C VV MANE Preferred NP_001664.3:p.Ser427Pro
ENST00000175506.8:c.1279T>C ENSP00000175506.4:p.Ser427Pro
ENST00000394308.7:c.1279T>C ENSP00000377845.3:p.Ser427Pro
ENST00000394309.7:c.1279T>C ENSP00000377846.3:p.Ser427Pro
ENST00000422745.5:c.1216T>C ENSP00000414901.1:p.Ser406Pro
ENST00000437628.5:c.1030T>C ENSP00000414379.1:p.Ser344Pro
ENST00000444334.5:c.1216T>C ENSP00000406994.1:p.Ser406Pro
ENST00000454046.5:c.*147T>C ENSP00000401651.1:p.=
ENST00000455086.5:c.1030T>C ENSP00000408472.1:p.Ser344Pro
ENST00000487714.1:n.337T>C