Canonical Allele Identifier: CA456634764

Gene: ASNS

Linked Data

• ClinVar Variation Id: 3008543
• ClinVar RCV Id: RCV003861670
• dbSNP Id: rs1265885682
• MyVariant Identifiers: chr7:g.97482680T>C (hg19) ; chr7:g.97853368T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97853368T>C , CM000669.2:g.97853368T>C	GRCh38
NC_000007.13:g.97482680T>C , CM000669.1:g.97482680T>C	GRCh37
NC_000007.12:g.97320616T>C	NCBI36
NG_033870.1:g.24175A>G
NG_033870.2:g.80195A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394308.8:c.1257A>G MANE Select	ENSP00000377845.3:p.Pro419=
ENST00000175506.8:c.1257A>G	ENSP00000175506.4:p.Pro419=
ENST00000394308.7:c.1257A>G	ENSP00000377845.3:p.Pro419=
ENST00000394309.7:c.1257A>G	ENSP00000377846.3:p.Pro419=
ENST00000422745.5:c.1194A>G	ENSP00000414901.1:p.Pro398=
ENST00000437628.5:c.1008A>G	ENSP00000414379.1:p.Pro336=
ENST00000444334.5:c.1194A>G	ENSP00000406994.1:p.Pro398=
ENST00000454046.5:c.*125A>G	ENSP00000401651.1:n.*125A>G
ENST00000455086.5:c.1008A>G	ENSP00000408472.1:p.Pro336=
ENST00000487714.1:n.315A>G
NM_001178075.1:c.1194A>G	NP_001171546.1:p.Pro398=
NM_001178076.1:c.1008A>G	NP_001171547.1:p.Pro336=
NM_001178077.1:c.1008A>G	NP_001171548.1:p.Pro336=
NM_001673.4:c.1257A>G	NP_001664.3:p.Pro419=
NM_133436.3:c.1257A>G	NP_597680.2:p.Pro419=
NM_183356.3:c.1257A>G	NP_899199.2:p.Pro419=
NM_001352496.1:c.1257A>G	NP_001339425.1:p.Pro419=
NR_147989.1:n.2960A>G
NM_001673.5:c.1257A>G MANE Select	NP_001664.3:p.Pro419=
NM_001178075.2:c.1194A>G	NP_001171546.1:p.Pro398=
NM_001178076.2:c.1008A>G	NP_001171547.1:p.Pro336=
NM_001352496.2:c.1257A>G	NP_001339425.1:p.Pro419=
NM_183356.4:c.1257A>G	NP_899199.2:p.Pro419=