Canonical Allele Identifier: CA285295
Gene: ASL HGNC NCBI

Linked Data

ClinVar Variation Id: 21253
dbSNP Id: rs367543005

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66089693C>T , CM000669.2:g.66089693C>T GRCh38
NC_000007.13:g.65554680C>T , CM000669.1:g.65554680C>T GRCh37
NC_000007.12:g.65192115C>T NCBI36
NG_009288.1:g.18905C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000304874.14:c.1060C>T MANE Select ENSP00000307188.9:p.Gln354Ter
ENST00000362000.10:c.865C>T ENSP00000354710.6:p.Gln289Ter
ENST00000380839.9:c.982C>T ENSP00000370219.4:p.Gln328Ter
ENST00000395331.4:c.1000C>T ENSP00000378740.3:p.Gln334Ter
ENST00000395332.8:c.1060C>T ENSP00000378741.3:p.Gln354Ter
ENST00000488343.2:c.147+358C>T ENSP00000500864.1:n.147+358C>T
ENST00000671817.1:c.982C>T ENSP00000500462.1:p.Gln328Ter
ENST00000672498.1:c.*359C>T ENSP00000500227.1:n.*359C>T
ENST00000672586.1:n.1819C>T
ENST00000672676.1:n.2084C>T
ENST00000673149.1:n.872C>T
ENST00000673350.1:n.3177C>T
ENST00000673518.1:c.982C>T ENSP00000499889.1:p.Gln328Ter
ENST00000304874.13:c.1060C>T ENSP00000307188.9:p.Gln354Ter
ENST00000380839.8:c.982C>T ENSP00000370219.4:p.Gln328Ter
ENST00000395331.3:c.1000C>T ENSP00000378740.3:p.Gln334Ter
ENST00000395332.7:c.1060C>T ENSP00000378741.3:p.Gln354Ter
ENST00000450043.2:c.373C>T ENSP00000396527.2:p.Gln125Ter
ENST00000464970.1:n.179C>T
ENST00000488343.1:n.147+358C>T
ENST00000493708.5:n.541C>T
NM_000048.3:c.1060C>T NP_000039.2:p.Gln354Ter
NM_001024943.1:c.1060C>T NP_001020114.1:p.Gln354Ter
NM_001024944.1:c.1000C>T NP_001020115.1:p.Gln334Ter
NM_001024946.1:c.982C>T NP_001020117.1:p.Gln328Ter
NM_000048.4:c.1060C>T MANE Select NP_000039.2:p.Gln354Ter
NM_001024943.2:c.1060C>T NP_001020114.1:p.Gln354Ter
NM_001024944.2:c.1000C>T NP_001020115.1:p.Gln334Ter
NM_001024946.2:c.982C>T NP_001020117.1:p.Gln328Ter