Canonical Allele Identifier: CA163034092

Gene: ASNS

Linked Data

• ClinVar Variation Id: 2739478
• ClinVar RCV Id: RCV003555502
• dbSNP Id: rs541195399
• gnomAD v4: 7-97864240-T-C
• MyVariant Identifiers: chr7:g.97493552T>C (hg19) ; chr7:g.97864240T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97864240T>C , CM000669.2:g.97864240T>C	GRCh38
NC_000007.13:g.97493552T>C , CM000669.1:g.97493552T>C	GRCh37
NC_000007.12:g.97331488T>C	NCBI36
NG_033870.1:g.13303A>G
NG_033870.2:g.69323A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394308.8:c.487+19A>G MANE Select	ENSP00000377845.3:n.487+19A>G
ENST00000175506.8:c.487+19A>G	ENSP00000175506.4:n.487+19A>G
ENST00000394308.7:c.487+19A>G	ENSP00000377845.3:n.487+19A>G
ENST00000394309.7:c.487+19A>G	ENSP00000377846.3:n.487+19A>G
ENST00000422745.5:c.424+19A>G	ENSP00000414901.1:n.424+19A>G
ENST00000437628.5:c.238+19A>G	ENSP00000414379.1:n.238+19A>G
ENST00000442734.5:c.487+19A>G	ENSP00000400422.1:n.487+19A>G
ENST00000444334.5:c.424+19A>G	ENSP00000406994.1:n.424+19A>G
ENST00000454046.5:c.487+19A>G	ENSP00000401651.1:n.487+19A>G
ENST00000455086.5:c.238+19A>G	ENSP00000408472.1:n.238+19A>G
ENST00000495255.1:n.534A>G
NM_001178075.1:c.424+19A>G	NP_001171546.1:n.424+19A>G
NM_001178076.1:c.238+19A>G	NP_001171547.1:n.238+19A>G
NM_001178077.1:c.238+19A>G	NP_001171548.1:n.238+19A>G
NM_001673.4:c.487+19A>G	NP_001664.3:n.487+19A>G
NM_133436.3:c.487+19A>G	NP_597680.2:n.487+19A>G
NM_183356.3:c.487+19A>G	NP_899199.2:n.487+19A>G
NM_001352496.1:c.487+19A>G	NP_001339425.1:n.487+19A>G
NR_147989.1:n.2116+19A>G
NM_001673.5:c.487+19A>G MANE Select	NP_001664.3:n.487+19A>G
NM_001178075.2:c.424+19A>G	NP_001171546.1:n.424+19A>G
NM_001178076.2:c.238+19A>G	NP_001171547.1:n.238+19A>G
NM_001352496.2:c.487+19A>G	NP_001339425.1:n.487+19A>G
NM_183356.4:c.487+19A>G	NP_899199.2:n.487+19A>G