Canonical Allele Identifier: CA312333
Gene: ASL HGNC NCBI

Linked Data

ClinVar Variation Id: 1383503
ClinVar RCV Id: RCV001892645
dbSNP Id: rs770167670
gnomAD v2: 7-65557593-C-A
gnomAD v4: 7-66092606-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66092606C>A , CM000669.2:g.66092606C>A GRCh38
NC_000007.13:g.65557593C>A , CM000669.1:g.65557593C>A GRCh37
NC_000007.12:g.65195028C>A NCBI36
NG_009288.1:g.21818C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304874.14:c.1193C>A MANE Select ENSP00000307188.9:p.Ala398Asp
ENST00000362000.10:c.998C>A ENSP00000354710.6:p.Ala333Asp
ENST00000380839.9:c.1115C>A ENSP00000370219.4:p.Ala372Asp
ENST00000395331.4:c.1133C>A ENSP00000378740.3:p.Ala378Asp
ENST00000395332.8:c.1193C>A ENSP00000378741.3:p.Ala398Asp
ENST00000488343.2:c.148-298C>A ENSP00000500864.1:n.148-298C>A
ENST00000672498.1:c.*492C>A ENSP00000500227.1:n.*492C>A
ENST00000672586.1:n.1952C>A
ENST00000672676.1:n.2217C>A
ENST00000673149.1:n.1005C>A
ENST00000673350.1:n.3310C>A
ENST00000673518.1:c.1115C>A ENSP00000499889.1:p.Ala372Asp
ENST00000304874.13:c.1193C>A ENSP00000307188.9:p.Ala398Asp
ENST00000380839.8:c.1115C>A ENSP00000370219.4:p.Ala372Asp
ENST00000395331.3:c.1133C>A ENSP00000378740.3:p.Ala378Asp
ENST00000395332.7:c.1193C>A ENSP00000378741.3:p.Ala398Asp
ENST00000450043.2:c.506C>A ENSP00000396527.2:p.Ala169Asp
ENST00000464970.1:n.396C>A
ENST00000488343.1:n.148-298C>A
ENST00000493708.5:n.674C>A
NM_000048.3:c.1193C>A NP_000039.2:p.Ala398Asp
NM_001024943.1:c.1193C>A NP_001020114.1:p.Ala398Asp
NM_001024944.1:c.1133C>A NP_001020115.1:p.Ala378Asp
NM_001024946.1:c.1115C>A NP_001020117.1:p.Ala372Asp
NM_000048.4:c.1193C>A MANE Select NP_000039.2:p.Ala398Asp
NM_001024943.2:c.1193C>A NP_001020114.1:p.Ala398Asp
NM_001024944.2:c.1133C>A NP_001020115.1:p.Ala378Asp
NM_001024946.2:c.1115C>A NP_001020117.1:p.Ala372Asp