Canonical Allele Identifier: CA368265165

Gene: ASNS

Linked Data

• gnomAD v4: 7-97853345-G-C
• MyVariant Identifiers: chr7:g.97482657G>C (hg19) ; chr7:g.97853345G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97853345G>C , CM000669.2:g.97853345G>C	GRCh38
NC_000007.13:g.97482657G>C , CM000669.1:g.97482657G>C	GRCh37
NC_000007.12:g.97320593G>C	NCBI36
NG_033870.1:g.24198C>G
NG_033870.2:g.80218C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394308.8:c.1280C>G MANE Select	ENSP00000377845.3:p.Ser427Cys
ENST00000175506.8:c.1280C>G	ENSP00000175506.4:p.Ser427Cys
ENST00000394308.7:c.1280C>G	ENSP00000377845.3:p.Ser427Cys
ENST00000394309.7:c.1280C>G	ENSP00000377846.3:p.Ser427Cys
ENST00000422745.5:c.1217C>G	ENSP00000414901.1:p.Ser406Cys
ENST00000437628.5:c.1031C>G	ENSP00000414379.1:p.Ser344Cys
ENST00000444334.5:c.1217C>G	ENSP00000406994.1:p.Ser406Cys
ENST00000454046.5:c.*148C>G	ENSP00000401651.1:n.*148C>G
ENST00000455086.5:c.1031C>G	ENSP00000408472.1:p.Ser344Cys
ENST00000487714.1:n.338C>G
NM_001178075.1:c.1217C>G	NP_001171546.1:p.Ser406Cys
NM_001178076.1:c.1031C>G	NP_001171547.1:p.Ser344Cys
NM_001178077.1:c.1031C>G	NP_001171548.1:p.Ser344Cys
NM_001673.4:c.1280C>G	NP_001664.3:p.Ser427Cys
NM_133436.3:c.1280C>G	NP_597680.2:p.Ser427Cys
NM_183356.3:c.1280C>G	NP_899199.2:p.Ser427Cys
NM_001352496.1:c.1280C>G	NP_001339425.1:p.Ser427Cys
NR_147989.1:n.2983C>G
NM_001673.5:c.1280C>G MANE Select	NP_001664.3:p.Ser427Cys
NM_001178075.2:c.1217C>G	NP_001171546.1:p.Ser406Cys
NM_001178076.2:c.1031C>G	NP_001171547.1:p.Ser344Cys
NM_001352496.2:c.1280C>G	NP_001339425.1:p.Ser427Cys
NM_183356.4:c.1280C>G	NP_899199.2:p.Ser427Cys