Canonical Allele Identifier: CA455451218

Gene: ASL

Linked Data

• ClinVar Variation Id: 1144223
• ClinVar RCV Id: RCV001482628
• dbSNP Id: rs2115743513
• MyVariant Identifiers: chr7:g.65554304C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089317C>A , CM000669.2:g.66089317C>A	GRCh38
NC_000007.13:g.65554304C>A , CM000669.1:g.65554304C>A	GRCh37
NC_000007.12:g.65191739C>A	NCBI36
NG_009288.1:g.18529C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.960C>A MANE Select	ENSP00000307188.9:p.Thr320=
ENST00000362000.10:c.765C>A	ENSP00000354710.6:p.Thr255=
ENST00000380839.9:c.882C>A	ENSP00000370219.4:p.Thr294=
ENST00000395331.4:c.918+142C>A	ENSP00000378740.3:n.918+142C>A
ENST00000395332.8:c.960C>A	ENSP00000378741.3:p.Thr320=
ENST00000488343.2:c.129C>A	ENSP00000500864.1:p.Thr43=
ENST00000671817.1:c.882C>A	ENSP00000500462.1:p.Thr294=
ENST00000672498.1:c.*259C>A	ENSP00000500227.1:n.*259C>A
ENST00000672586.1:n.1719C>A
ENST00000672676.1:n.1984C>A
ENST00000673149.1:n.772C>A
ENST00000673350.1:n.3077C>A
ENST00000673518.1:c.882C>A	ENSP00000499889.1:p.Thr294=
ENST00000304874.13:c.960C>A	ENSP00000307188.9:p.Thr320=
ENST00000380839.8:c.882C>A	ENSP00000370219.4:p.Thr294=
ENST00000395331.3:c.918+142C>A	ENSP00000378740.3:n.918+142C>A
ENST00000395332.7:c.960C>A	ENSP00000378741.3:p.Thr320=
ENST00000450043.2:c.273C>A	ENSP00000396527.2:p.Thr91=
ENST00000464970.1:n.79C>A
ENST00000488343.1:n.129C>A
ENST00000493708.5:n.441C>A
NM_000048.3:c.960C>A	NP_000039.2:p.Thr320=
NM_001024943.1:c.960C>A	NP_001020114.1:p.Thr320=
NM_001024944.1:c.918+142C>A	NP_001020115.1:n.918+142C>A
NM_001024946.1:c.882C>A	NP_001020117.1:p.Thr294=
NM_000048.4:c.960C>A MANE Select	NP_000039.2:p.Thr320=
NM_001024943.2:c.960C>A	NP_001020114.1:p.Thr320=
NM_001024944.2:c.918+142C>A	NP_001020115.1:n.918+142C>A
NM_001024946.2:c.882C>A	NP_001020117.1:p.Thr294=