Canonical Allele Identifier: CA2683086240
Gene: ASL HGNC NCBI

Linked Data

gnomAD v4: 7-66087552-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66087552G>A , CM000669.2:g.66087552G>A GRCh38
NC_000007.13:g.65552539G>A , CM000669.1:g.65552539G>A GRCh37
NC_000007.12:g.65189974G>A NCBI36
NG_009288.1:g.16764G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.655+166G>A MANE Select ENSP00000307188.9:n.655+166G>A
ENST00000362000.10:c.460+166G>A ENSP00000354710.6:n.460+166G>A
ENST00000380839.9:c.577+166G>A ENSP00000370219.4:n.577+166G>A
ENST00000395331.4:c.655+166G>A ENSP00000378740.3:n.655+166G>A
ENST00000395332.8:c.655+166G>A ENSP00000378741.3:n.655+166G>A
ENST00000671817.1:c.577+166G>A ENSP00000500462.1:n.577+166G>A
ENST00000672498.1:c.447-177G>A ENSP00000500227.1:n.447-177G>A
ENST00000672586.1:n.1238G>A
ENST00000672676.1:n.1503G>A
ENST00000673149.1:n.467+166G>A
ENST00000673350.1:n.1581G>A
ENST00000673518.1:c.577+166G>A ENSP00000499889.1:n.577+166G>A
ENST00000673594.1:n.670G>A
ENST00000304874.13:c.655+166G>A ENSP00000307188.9:n.655+166G>A
ENST00000362000.9:c.460+166G>A ENSP00000354710.5:n.460+166G>A
ENST00000380839.8:c.577+166G>A ENSP00000370219.4:n.577+166G>A
ENST00000395331.3:c.655+166G>A ENSP00000378740.3:n.655+166G>A
ENST00000395332.7:c.655+166G>A ENSP00000378741.3:n.655+166G>A
NM_000048.3:c.655+166G>A NP_000039.2:n.655+166G>A
NM_001024943.1:c.655+166G>A NP_001020114.1:n.655+166G>A
NM_001024944.1:c.655+166G>A NP_001020115.1:n.655+166G>A
NM_001024946.1:c.577+166G>A NP_001020117.1:n.577+166G>A
NM_000048.4:c.655+166G>A MANE Select NP_000039.2:n.655+166G>A
NM_001024943.2:c.655+166G>A NP_001020114.1:n.655+166G>A
NM_001024944.2:c.655+166G>A NP_001020115.1:n.655+166G>A
NM_001024946.2:c.577+166G>A NP_001020117.1:n.577+166G>A