Canonical Allele Identifier: CA368264420

Gene: ASNS

Linked Data

• ClinVar Variation Id: 2823801
• ClinVar RCV Id: RCV003689107
• MyVariant Identifiers: chr7:g.97482374G>A (hg19) ; chr7:g.97853062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97853062G>A , CM000669.2:g.97853062G>A	GRCh38
NC_000007.13:g.97482374G>A , CM000669.1:g.97482374G>A	GRCh37
NC_000007.12:g.97320310G>A	NCBI36
NG_033870.1:g.24481C>T
NG_033870.2:g.80501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394308.8:c.1474C>T MANE Select	ENSP00000377845.3:p.Gln492Ter
ENST00000175506.8:c.1474C>T	ENSP00000175506.4:p.Gln492Ter
ENST00000394308.7:c.1474C>T	ENSP00000377845.3:p.Gln492Ter
ENST00000394309.7:c.1474C>T	ENSP00000377846.3:p.Gln492Ter
ENST00000422745.5:c.1411C>T	ENSP00000414901.1:p.Gln471Ter
ENST00000437628.5:c.1225C>T	ENSP00000414379.1:p.Gln409Ter
ENST00000444334.5:c.1411C>T	ENSP00000406994.1:p.Gln471Ter
ENST00000454046.5:c.*342C>T	ENSP00000401651.1:n.*342C>T
ENST00000455086.5:c.1225C>T	ENSP00000408472.1:p.Gln409Ter
ENST00000487714.1:n.532C>T
NM_001178075.1:c.1411C>T	NP_001171546.1:p.Gln471Ter
NM_001178076.1:c.1225C>T	NP_001171547.1:p.Gln409Ter
NM_001178077.1:c.1225C>T	NP_001171548.1:p.Gln409Ter
NM_001673.4:c.1474C>T	NP_001664.3:p.Gln492Ter
NM_133436.3:c.1474C>T	NP_597680.2:p.Gln492Ter
NM_183356.3:c.1474C>T	NP_899199.2:p.Gln492Ter
NM_001352496.1:c.1474C>T	NP_001339425.1:p.Gln492Ter
NR_147989.1:n.3177C>T
NM_001673.5:c.1474C>T MANE Select	NP_001664.3:p.Gln492Ter
NM_001178075.2:c.1411C>T	NP_001171546.1:p.Gln471Ter
NM_001178076.2:c.1225C>T	NP_001171547.1:p.Gln409Ter
NM_001352496.2:c.1474C>T	NP_001339425.1:p.Gln492Ter
NM_183356.4:c.1474C>T	NP_899199.2:p.Gln492Ter