Canonical Allele Identifier: CA4354540

Gene: ASNS

Linked Data

• dbSNP Id: rs748203238
• ExAC: 7:97482675 A / G
• gnomAD v2: 7-97482675-A-G
• gnomAD v4: 7-97853363-A-G
• MyVariant Identifiers: chr7:g.97482675A>G (hg19) ; chr7:g.97853363A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97853363A>G , CM000669.2:g.97853363A>G	GRCh38
NC_000007.13:g.97482675A>G , CM000669.1:g.97482675A>G	GRCh37
NC_000007.12:g.97320611A>G	NCBI36
NG_033870.1:g.24180T>C
NG_033870.2:g.80200T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394308.8:c.1262T>C MANE Select	ENSP00000377845.3:p.Leu421Pro
ENST00000175506.8:c.1262T>C	ENSP00000175506.4:p.Leu421Pro
ENST00000394308.7:c.1262T>C	ENSP00000377845.3:p.Leu421Pro
ENST00000394309.7:c.1262T>C	ENSP00000377846.3:p.Leu421Pro
ENST00000422745.5:c.1199T>C	ENSP00000414901.1:p.Leu400Pro
ENST00000437628.5:c.1013T>C	ENSP00000414379.1:p.Leu338Pro
ENST00000444334.5:c.1199T>C	ENSP00000406994.1:p.Leu400Pro
ENST00000454046.5:c.*130T>C	ENSP00000401651.1:n.*130T>C
ENST00000455086.5:c.1013T>C	ENSP00000408472.1:p.Leu338Pro
ENST00000487714.1:n.320T>C
NM_001178075.1:c.1199T>C	NP_001171546.1:p.Leu400Pro
NM_001178076.1:c.1013T>C	NP_001171547.1:p.Leu338Pro
NM_001178077.1:c.1013T>C	NP_001171548.1:p.Leu338Pro
NM_001673.4:c.1262T>C	NP_001664.3:p.Leu421Pro
NM_133436.3:c.1262T>C	NP_597680.2:p.Leu421Pro
NM_183356.3:c.1262T>C	NP_899199.2:p.Leu421Pro
NM_001352496.1:c.1262T>C	NP_001339425.1:p.Leu421Pro
NR_147989.1:n.2965T>C
NM_001673.5:c.1262T>C MANE Select	NP_001664.3:p.Leu421Pro
NM_001178075.2:c.1199T>C	NP_001171546.1:p.Leu400Pro
NM_001178076.2:c.1013T>C	NP_001171547.1:p.Leu338Pro
NM_001352496.2:c.1262T>C	NP_001339425.1:p.Leu421Pro
NM_183356.4:c.1262T>C	NP_899199.2:p.Leu421Pro