Canonical Allele Identifier: CA1102407862
Gene: ASL HGNC NCBI

Linked Data

dbSNP Id: rs1786708542
gnomAD v3: 7-66087635-C-A
gnomAD v4: 7-66087635-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66087635C>A , CM000669.2:g.66087635C>A GRCh38
NC_000007.13:g.65552622C>A , CM000669.1:g.65552622C>A GRCh37
NC_000007.12:g.65190057C>A NCBI36
NG_009288.1:g.16847C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.656-94C>A MANE Select ENSP00000307188.9:n.656-94C>A
ENST00000362000.10:c.461-94C>A ENSP00000354710.6:n.461-94C>A
ENST00000380839.9:c.578-94C>A ENSP00000370219.4:n.578-94C>A
ENST00000395331.4:c.656-94C>A ENSP00000378740.3:n.656-94C>A
ENST00000395332.8:c.656-94C>A ENSP00000378741.3:n.656-94C>A
ENST00000671817.1:c.578-94C>A ENSP00000500462.1:n.578-94C>A
ENST00000672498.1:c.447-94C>A ENSP00000500227.1:n.447-94C>A
ENST00000672586.1:n.1321C>A
ENST00000672676.1:n.1586C>A
ENST00000673149.1:n.468-94C>A
ENST00000673350.1:n.1664C>A
ENST00000673518.1:c.578-94C>A ENSP00000499889.1:n.578-94C>A
ENST00000673594.1:n.753C>A
ENST00000304874.13:c.656-94C>A ENSP00000307188.9:n.656-94C>A
ENST00000362000.9:c.461-94C>A ENSP00000354710.5:n.461-94C>A
ENST00000380839.8:c.578-94C>A ENSP00000370219.4:n.578-94C>A
ENST00000395331.3:c.656-94C>A ENSP00000378740.3:n.656-94C>A
ENST00000395332.7:c.656-94C>A ENSP00000378741.3:n.656-94C>A
NM_000048.3:c.656-94C>A NP_000039.2:n.656-94C>A
NM_001024943.1:c.656-94C>A NP_001020114.1:n.656-94C>A
NM_001024944.1:c.656-94C>A NP_001020115.1:n.656-94C>A
NM_001024946.1:c.578-94C>A NP_001020117.1:n.578-94C>A
NM_000048.4:c.656-94C>A MANE Select NP_000039.2:n.656-94C>A
NM_001024943.2:c.656-94C>A NP_001020114.1:n.656-94C>A
NM_001024944.2:c.656-94C>A NP_001020115.1:n.656-94C>A
NM_001024946.2:c.578-94C>A NP_001020117.1:n.578-94C>A