Canonical Allele Identifier: CA4354535

Gene: ASNS

Linked Data

• dbSNP Id: rs778919554
• ExAC: 7:97482645 G / C
• gnomAD v2: 7-97482645-G-C
• gnomAD v4: 7-97853333-G-C
• MyVariant Identifiers: chr7:g.97482645G>C (hg19) ; chr7:g.97853333G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97853333G>C , CM000669.2:g.97853333G>C	GRCh38
NC_000007.13:g.97482645G>C , CM000669.1:g.97482645G>C	GRCh37
NC_000007.12:g.97320581G>C	NCBI36
NG_033870.1:g.24210C>G
NG_033870.2:g.80230C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394308.8:c.1292C>G MANE Select	ENSP00000377845.3:p.Ser431Cys
ENST00000175506.8:c.1292C>G	ENSP00000175506.4:p.Ser431Cys
ENST00000394308.7:c.1292C>G	ENSP00000377845.3:p.Ser431Cys
ENST00000394309.7:c.1292C>G	ENSP00000377846.3:p.Ser431Cys
ENST00000422745.5:c.1229C>G	ENSP00000414901.1:p.Ser410Cys
ENST00000437628.5:c.1043C>G	ENSP00000414379.1:p.Ser348Cys
ENST00000444334.5:c.1229C>G	ENSP00000406994.1:p.Ser410Cys
ENST00000454046.5:c.*160C>G	ENSP00000401651.1:n.*160C>G
ENST00000455086.5:c.1043C>G	ENSP00000408472.1:p.Ser348Cys
ENST00000487714.1:n.350C>G
NM_001178075.1:c.1229C>G	NP_001171546.1:p.Ser410Cys
NM_001178076.1:c.1043C>G	NP_001171547.1:p.Ser348Cys
NM_001178077.1:c.1043C>G	NP_001171548.1:p.Ser348Cys
NM_001673.4:c.1292C>G	NP_001664.3:p.Ser431Cys
NM_133436.3:c.1292C>G	NP_597680.2:p.Ser431Cys
NM_183356.3:c.1292C>G	NP_899199.2:p.Ser431Cys
NM_001352496.1:c.1292C>G	NP_001339425.1:p.Ser431Cys
NR_147989.1:n.2995C>G
NM_001673.5:c.1292C>G MANE Select	NP_001664.3:p.Ser431Cys
NM_001178075.2:c.1229C>G	NP_001171546.1:p.Ser410Cys
NM_001178076.2:c.1043C>G	NP_001171547.1:p.Ser348Cys
NM_001352496.2:c.1292C>G	NP_001339425.1:p.Ser431Cys
NM_183356.4:c.1292C>G	NP_899199.2:p.Ser431Cys