Canonical Allele Identifier: CA357226
Gene: ASL HGNC NCBI

Linked Data

ClinVar Variation Id: 224977
ClinVar RCV Id: RCV000210677
dbSNP Id: rs869312992
gnomAD v4: 7-66089146-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66089146C>T , CM000669.2:g.66089146C>T GRCh38
NC_000007.13:g.65554133C>T , CM000669.1:g.65554133C>T GRCh37
NC_000007.12:g.65191568C>T NCBI36
NG_009288.1:g.18358C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000304874.14:c.889C>T MANE Select ENSP00000307188.9:p.Arg297Trp
ENST00000362000.10:c.694C>T ENSP00000354710.6:p.Arg232Trp
ENST00000380839.9:c.811C>T ENSP00000370219.4:p.Arg271Trp
ENST00000395331.4:c.889C>T ENSP00000378740.3:p.Arg297Trp
ENST00000395332.8:c.889C>T ENSP00000378741.3:p.Arg297Trp
ENST00000488343.2:c.58C>T ENSP00000500864.1:p.Arg20Trp
ENST00000671817.1:c.811C>T ENSP00000500462.1:p.Arg271Trp
ENST00000672498.1:c.*188C>T ENSP00000500227.1:n.*188C>T
ENST00000672586.1:n.1648C>T
ENST00000672676.1:n.1913C>T
ENST00000673149.1:n.701C>T
ENST00000673350.1:n.3006C>T
ENST00000673518.1:c.811C>T ENSP00000499889.1:p.Arg271Trp
ENST00000304874.13:c.889C>T ENSP00000307188.9:p.Arg297Trp
ENST00000362000.9:c.694C>T ENSP00000354710.5:p.Arg232Trp
ENST00000380839.8:c.811C>T ENSP00000370219.4:p.Arg271Trp
ENST00000395331.3:c.889C>T ENSP00000378740.3:p.Arg297Trp
ENST00000395332.7:c.889C>T ENSP00000378741.3:p.Arg297Trp
ENST00000450043.2:c.202C>T ENSP00000396527.2:p.Arg68Trp
ENST00000488343.1:n.58C>T
ENST00000493708.5:n.270C>T
NM_000048.3:c.889C>T NP_000039.2:p.Arg297Trp
NM_001024943.1:c.889C>T NP_001020114.1:p.Arg297Trp
NM_001024944.1:c.889C>T NP_001020115.1:p.Arg297Trp
NM_001024946.1:c.811C>T NP_001020117.1:p.Arg271Trp
NM_000048.4:c.889C>T MANE Select NP_000039.2:p.Arg297Trp
NM_001024943.2:c.889C>T NP_001020114.1:p.Arg297Trp
NM_001024944.2:c.889C>T NP_001020115.1:p.Arg297Trp
NM_001024946.2:c.811C>T NP_001020117.1:p.Arg271Trp