Canonical Allele Identifier: CA368265257

Gene: ASNS

Linked Data

• dbSNP Id: rs1369051838
• gnomAD v2: 7-97482677-A-C
• gnomAD v4: 7-97853365-A-C
• MyVariant Identifiers: chr7:g.97482677A>C (hg19) ; chr7:g.97853365A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97853365A>C , CM000669.2:g.97853365A>C	GRCh38
NC_000007.13:g.97482677A>C , CM000669.1:g.97482677A>C	GRCh37
NC_000007.12:g.97320613A>C	NCBI36
NG_033870.1:g.24178T>G
NG_033870.2:g.80198T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000394308.8:c.1260T>G MANE Select	ENSP00000377845.3:p.Phe420Leu
ENST00000175506.8:c.1260T>G	ENSP00000175506.4:p.Phe420Leu
ENST00000394308.7:c.1260T>G	ENSP00000377845.3:p.Phe420Leu
ENST00000394309.7:c.1260T>G	ENSP00000377846.3:p.Phe420Leu
ENST00000422745.5:c.1197T>G	ENSP00000414901.1:p.Phe399Leu
ENST00000437628.5:c.1011T>G	ENSP00000414379.1:p.Phe337Leu
ENST00000444334.5:c.1197T>G	ENSP00000406994.1:p.Phe399Leu
ENST00000454046.5:c.*128T>G	ENSP00000401651.1:n.*128T>G
ENST00000455086.5:c.1011T>G	ENSP00000408472.1:p.Phe337Leu
ENST00000487714.1:n.318T>G
NM_001178075.1:c.1197T>G	NP_001171546.1:p.Phe399Leu
NM_001178076.1:c.1011T>G	NP_001171547.1:p.Phe337Leu
NM_001178077.1:c.1011T>G	NP_001171548.1:p.Phe337Leu
NM_001673.4:c.1260T>G	NP_001664.3:p.Phe420Leu
NM_133436.3:c.1260T>G	NP_597680.2:p.Phe420Leu
NM_183356.3:c.1260T>G	NP_899199.2:p.Phe420Leu
NM_001352496.1:c.1260T>G	NP_001339425.1:p.Phe420Leu
NR_147989.1:n.2963T>G
NM_001673.5:c.1260T>G MANE Select	NP_001664.3:p.Phe420Leu
NM_001178075.2:c.1197T>G	NP_001171546.1:p.Phe399Leu
NM_001178076.2:c.1011T>G	NP_001171547.1:p.Phe337Leu
NM_001352496.2:c.1260T>G	NP_001339425.1:p.Phe420Leu
NM_183356.4:c.1260T>G	NP_899199.2:p.Phe420Leu